PA-1
MCID: PRP001
MIFTS: 65

Propionic Acidemia (PA-1)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Propionic Acidemia

MalaCards integrated aliases for Propionic Acidemia:

Name: Propionic Acidemia 56 12 24 52 25 58 36 29 54 6 43 15 71
Ketotic Hyperglycinemia 56 12 52 25 58 54
Propionyl-Coa Carboxylase Deficiency 56 12 52 25 58
Propionicacidemia 56 52 25 13 6
Pcc Deficiency 56 74 52 25
Hyperglycinemia with Ketoacidosis and Leukopenia 56 52 25
Glycinemia, Ketotic 56 12 52
Ketotic Glycinemia 12 52 25
Acidemia, Propionic 74 39
Propionic Aciduria 12 58
Prop 52 25
Pa-1 73 17
Propionic Acidemia Type Ii 73
Propionic Acidemia Type I 73
Hyperglycinemia, Ketotic 74
Ketotic Ii Glycinemia 12
Propionicaciduria 71
Pa-2 73

Characteristics:

Orphanet epidemiological data:

58
propionic acidemia
Inheritance: Autosomal recessive; Prevalence: >1/1000 (Canada),1-9/100000 (Worldwide),1-9/1000000 (Europe),1-9/1000000 (Italy),1-9/100000 (Germany),1-5/10000 (Saudi Arabia),1-9/100000 (Japan),1-9/100000 (Korea, Republic of); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
majority of patients develop symptoms within the first few weeks of life
two complementation groups - pcca (secondary to defects in the alpha chain of pcc, ) and pccbc (secondary to defects in the beta subunit of pcc, )
course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation


HPO:

31
propionic acidemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Propionic Acidemia

OMIM : 56 Propionic acidemia is an autosomal recessive metabolic disorder caused by defective functioning in the mitochondrial enzyme propionyl CoA carboxylase (PCC), resulting in the accumulation of propionic acid metabolites, and dysfunction in the respiratory chain and urea cycle pathways. The disorder is clinically heterogeneous. A neonatal-onset form is characterized by poor feeding, vomiting, and fatigue in the first days of life in a previously healthy infant, and if untreated, may be followed by lethargy, seizures, coma, and death. The neonatal form is frequently accompanied by metabolic acidosis with anion gap, ketonuria, hypoglycemia, hyperammonemia, and cytopenia. A late-onset form in older children and adults has a milder phenotype, is less common, and may present with developmental regression, chronic vomiting, protein intolerance, failure to thrive, hypotonia, and occasionally basal ganglia infarction, which may result in dystonia and choreoathetosis, and cardiomyopathy. Metabolically unstable individuals can have an acute decompensation that resembles the neonatal presentation, often precipitated by a catabolic stress such as infection, injury, or surgery, or an excessive intake of intact (i.e., complete, dietary, or natural) protein. Long-term manifestations of neonatal and late onset of propionic acidemia can include growth impairment, intellectual disability, seizures, basal ganglia lesions, pancreatitis, and cardiomyopathy. Other less common manifestations include optic atrophy, hearing loss, premature ovarian insufficiency, and chronic renal failure (summary by Jurecki et al., 2019). (606054)

MalaCards based summary : Propionic Acidemia, also known as ketotic hyperglycinemia, is related to carbonic anhydrase va deficiency, hyperammonemia due to and metabolic acidosis, and has symptoms including seizures, vomiting and apnea. An important gene associated with Propionic Acidemia is PCCA (Propionyl-CoA Carboxylase Subunit Alpha), and among its related pathways/superpathways are Valine, leucine and isoleucine degradation and Propanoate metabolism. The drugs Desflurane and Dexmedetomidine have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and brain, and related phenotypes are hypoglycemia and constipation

Disease Ontology : 12 An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy.

Genetics Home Reference : 25 Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems. In most cases, the features of propionic acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including heart abnormalities, seizures, coma, and possibly death. Less commonly, the signs and symptoms of propionic acidemia appear during childhood and may come and go over time. Some affected children experience intellectual disability or delayed development. In children with this later-onset form of the condition, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), fever, or infections.

NIH Rare Diseases : 52 Propionic acidemia is an inherited condition in which the body can't breakdown certain parts of proteins and fats. This leads to a build-up of toxic substances and to bouts of serious illness called decompensation events or metabolic crises. Symptoms of a decompensation event include poor feeding, vomiting, weak muscle tone (hypotonia ), and lack of energy (lethargy). This usually occurs within the first few days after birth. Without early diagnosis and treatment, these symptoms may lead to more serious medical problems, including heart abnormalities, seizures , intellectual disability , coma, and possibly death. Propionic acidemia is caused by changes (mutations ) in the PCCA and PCCB genes and is inherited in an autosomal recessive manner. Treatment includes aggressive management of decompensation events, a special protein-restricted diet and medications.

KEGG : 36 Propionic acidaemia is caused by a deficiency of propionyl-CoA carboxylase which accumulates toxic compounds affecting brain metabolism.

UniProtKB/Swiss-Prot : 73 Propionic acidemia type I: Life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein.
Propionic acidemia type II: Life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein.

Wikipedia : 74 Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid to accumulate in the... more...

GeneReviews: NBK92946

Related Diseases for Propionic Acidemia

Diseases related to Propionic Acidemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 187)
# Related Disease Score Top Affiliating Genes
1 carbonic anhydrase va deficiency, hyperammonemia due to 31.7 OTC NAGS CPS1 ASS1
2 metabolic acidosis 31.5 MCEE HMGCL HLCS
3 isolated methylmalonic acidemia 31.2 MMUT MMADHC MMAB MMAA MCEE
4 3-methylcrotonyl-coa carboxylase deficiency 31.1 PCCB MMD MMAA HLCS
5 inherited metabolic disorder 31.1 NAGS MMD BLOC1S1
6 biotinidase deficiency 30.9 PCCB MMD HLCS HIBCH
7 alpha-methylacetoacetic aciduria 30.7 MMD HMGCL HIBCH
8 biotin deficiency 30.6 PCCB PCCA HLCS
9 3-methylglutaconic aciduria, type iii 30.6 UQCRFS1 MMAA HIBCH BLOC1S1
10 reye syndrome 30.5 OTC HMGCL ASS1
11 lysinuric protein intolerance 30.5 OTC NAGS ASS1
12 vitamin b12 deficiency 30.5 MMUT MMD MMADHC LMBRD1
13 orotic aciduria 30.4 OTC NAGS CPS1 ASS1
14 argininemia 30.3 OTC NAGS HLCS CPS1 ASS1
15 argininosuccinic aciduria 30.3 OTC NAGS MMD CPS1 ASS1
16 maple syrup urine disease 30.2 PCCB OTC NAGS MMUT MMD MMAA
17 disorders of intracellular cobalamin metabolism 30.1 MMADHC LMBRD1
18 citrullinemia, classic 30.0 OTC NAGS MMD CPS1 BCKDHB ASS1
19 dystonia 30.0 MMUT MMADHC MMAA MCEE HIBCH
20 isovaleric acidemia 29.8 PCCB NAGS MMUT MMD MMAA CPS1
21 homocystinuria 29.8 OTC MMUT MMD MMADHC MMAA LMBRD1
22 methylmalonic acidemia 29.8 PCCB PCCA OTC NAGS MMUT MMD
23 organic acidemia 29.5 PCCB PCCA NAGS MMUT MMD MMADHC
24 spasticity, childhood-onset, with hyperglycinemia 12.4
25 d-glyceric aciduria 11.8
26 atypical glycine encephalopathy 11.5
27 teratocarcinoma 10.8
28 autosomal recessive disease 10.6
29 hypotonia 10.6
30 ocular motor apraxia 10.6
31 ovarian cancer 10.6
32 atrial standstill 1 10.5
33 optic nerve disease 10.4
34 postpartum psychosis 10.4 OTC ASS1
35 pyrimidine metabolic disorder 10.4 OTC NAGS ASS1
36 alacrima, achalasia, and mental retardation syndrome 10.4
37 dilated cardiomyopathy 10.4
38 hypoglycemia 10.4
39 encephalopathy 10.4
40 teratoma 10.4
41 autism spectrum disorder 10.3
42 long qt syndrome 10.3
43 kidney disease 10.3
44 neuropathy 10.3
45 branched-chain keto acid dehydrogenase kinase deficiency 10.3 BCKDHB ASS1
46 glutathione synthetase deficiency 10.3
47 mitochondrial dna depletion syndrome 10.3
48 paraplegia 10.3
49 respiratory failure 10.3
50 glyt1 encephalopathy 10.3

Graphical network of the top 20 diseases related to Propionic Acidemia:



Diseases related to Propionic Acidemia

Symptoms & Phenotypes for Propionic Acidemia

Human phenotypes related to Propionic Acidemia:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001943
2 constipation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002019
3 hyperammonemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001987
4 organic aciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001992
5 propionyl-coa carboxylase deficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0003353
6 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
7 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
8 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
9 arrhythmia 58 31 frequent (33%) Frequent (79-30%) HP:0011675
10 abnormality of immune system physiology 58 31 frequent (33%) Frequent (79-30%) HP:0010978
11 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
12 cerebellar hemorrhage 31 occasional (7.5%) HP:0011695
13 short stature 31 HP:0004322
14 feeding difficulties in infancy 31 HP:0008872
15 failure to thrive 31 HP:0001508
16 dehydration 31 HP:0001944
17 vomiting 31 HP:0002013
18 anemia 31 HP:0001903
19 osteoporosis 31 HP:0000939
20 thrombocytopenia 31 HP:0001873
21 apnea 31 HP:0002104
22 dystonia 31 HP:0001332
23 neutropenia 31 HP:0001875
24 eczema 31 HP:0000964
25 lethargy 31 HP:0001254
26 lactic acidosis 31 HP:0003128
27 metabolic acidosis 31 HP:0001942
28 tachypnea 31 HP:0002789
29 cerebral atrophy 31 HP:0002059
30 pancytopenia 31 HP:0001876
31 pancreatitis 31 HP:0001733
32 coma 31 HP:0001259
33 muscular hypotonia of the trunk 31 HP:0008936
34 poor appetite 31 HP:0004396
35 limb hypertonia 31 HP:0002509
36 acute encephalopathy 31 HP:0006846
37 hyperglycinemia 31 HP:0002154
38 psychomotor retardation 31 HP:0025356
39 hyperglycinuria 31 HP:0003108
40 seizure 31 HP:0001250
41 increased level of hippuric acid in urine 31 HP:0410066

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly

Growth Other:
failure to thrive

Laboratory Abnormalities:
hypoglycemia
hyperammonemia
lactic acidosis
propionyl-coa carboxylase deficiency
hyperglycinemia
more
Skeletal:
osteoporosis

Neurologic Central Nervous System:
dystonia
lethargy
cerebral atrophy
coma
limb hypertonia
more
Metabolic Features:
metabolic acidosis

Skin Nails Hair Skin:
dermatitis acidemica

Growth Height:
short stature

Abdomen Gastrointestinal:
dehydration
vomiting
feeding difficulties
decreased appetite

Hematology:
anemia
thrombocytopenia
neutropenia
pancytopenia

Respiratory:
apnea
tachypnea

Cardiovascular Heart:
cardiomyopathy

Abdomen Pancreas:
pancreatitis

Clinical features from OMIM:

606054

UMLS symptoms related to Propionic Acidemia:


seizures, vomiting, apnea, lethargy, decrease in appetite

MGI Mouse Phenotypes related to Propionic Acidemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.47 ASS1 BCKDHB BLOC1S1 CPS1 HIBCH HLCS

Drugs & Therapeutics for Propionic Acidemia

Drugs for Propionic Acidemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 99)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Desflurane Approved Phase 4 57041-67-5 42113
2
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
3
Morphine Approved, Investigational Phase 4 57-27-2 5288826
4
Remifentanil Approved Phase 4 132875-61-7 60815
5
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
6 Neurotransmitter Agents Phase 4
7 Adrenergic Agents Phase 4
8 Adrenergic alpha-Agonists Phase 4
9 Analgesics, Non-Narcotic Phase 4
10 Analgesics Phase 4
11 Adrenergic Agonists Phase 4
12 Anesthetics, Inhalation Phase 4
13 Platelet Aggregation Inhibitors Phase 4
14
Histamine Approved, Investigational Phase 3 51-45-6 774
15
Fluticasone Approved, Experimental Phase 3 90566-53-3 62924
16
Azelastine Approved Phase 3 58581-89-8 2267
17
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
18
Biotin Approved, Investigational, Nutraceutical Phase 3 58-85-5 171548
19 Vitamin B7 Phase 3
20 Respiratory System Agents Phase 3
21 Pharmaceutical Solutions Phase 3
22 Histamine Antagonists Phase 3
23 Anti-Allergic Agents Phase 3
24 Histamine H1 Antagonists Phase 3
25 Histamine H1 Antagonists, Non-Sedating Phase 3
26
Histamine Phosphate Phase 3 51-74-1 65513
27 Anti-Asthmatic Agents Phase 3
28 Dermatologic Agents Phase 3
29 Bronchodilator Agents Phase 3
30 Anti-Inflammatory Agents Phase 3
31
Dextromethorphan Approved Phase 2 125-71-3 5360696 5362449
32
Guaifenesin Approved, Investigational, Vet_approved Phase 2 93-14-1 3516
33
Propranolol Approved, Investigational Phase 1, Phase 2 525-66-6 4946
34
Propofol Approved, Investigational, Vet_approved Phase 1, Phase 2 2078-54-8 4943
35
Nitroglycerin Approved, Investigational Phase 1, Phase 2 55-63-0 4510
36
Ornithine Approved, Nutraceutical Phase 2 70-26-8, 3184-13-2 6262
37
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
38
Maleic acid Experimental, Investigational Phase 1, Phase 2 110-17-8, 110-16-7 444972
39 Excitatory Amino Acid Antagonists Phase 2
40 Antitussive Agents Phase 2
41 Chlorpheniramine, phenylpropanolamine drug combination Phase 2
42 Adrenergic beta-Antagonists Phase 1, Phase 2
43 Mitogens Phase 1, Phase 2
44 Adrenergic Antagonists Phase 1, Phase 2
45 Endothelial Growth Factors Phase 1, Phase 2
46 Anti-Arrhythmia Agents Phase 1, Phase 2
47 Ophthalmic Solutions Phase 2
48 Anesthetics, General Phase 1, Phase 2
49 Anesthetics Phase 1, Phase 2
50 Antihypertensive Agents Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 53)
# Name Status NCT ID Phase Drugs
1 Desflurane-induced Myocardial Protection in Aortic Valve Surgery: A Pilot Study Unknown status NCT02019797 Phase 4 Desflurane
2 The Combination Effect of Dexmedetomidine and Morphine in Postoperative Patient-Controlled Analgesia Completed NCT00800826 Phase 4 dexmedetomidine
3 Volatile Anesthetic Protection Of Renal Transplants 2 Recruiting NCT02727296 Phase 4 sevoflurane;propofol
4 Randomized Multicentre Comparative Trial to Evaluate the Long Term Effectiveness of the Use of Carbaglu® in Patients With Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA) Completed NCT02426775 Phase 3 Carglumic Acid
5 Multicentre, Randomized, Double-blind, Parallel Group Phase III Study to Assess Efficacy and Safety of Dymista® Compared to Azep® and Flixonase® Nasal Sprays in the Treatment of Chinese Patients With Allergic Rhinitis/Rhinoconjunctivitis Completed NCT03599791 Phase 3 Azelastine Hydrochl./Fluticasone Prop. 0.137/0.05 MG/ACTUAT;Azelastine Hydrochloride 0.137 MG/ACTUAT;Fluticasone Propionate 0.05 MG/ACTUAT
6 The Physical Activity Loyalty Card Scheme: A Randomised Controlled Trial to Encourage Physical Activity Completed NCT01575262 Phase 2, Phase 3
7 N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia Active, not recruiting NCT00843921 Phase 2, Phase 3 N-carbamylglutamate
8 Hypothermia Treatment in Hyperammonemia and Encephalopathy Completed NCT01624311 Phase 2
9 Placebo Controlled Trial of Dextromethorphan in Rett Syndrome Completed NCT01520363 Phase 2 dextromethorphan;placebo
10 A Randomized, Double-blind, Placebo-controlled, Parallel-group, Multicenter, Dose-ranging, Efficacy and Safety Study of Three Doses of TCH346 (1mg, 5mg and 20mg Daily) in Patients With Early Parkinson's Disease Completed NCT00407212 Phase 1, Phase 2 TCH346 (dibenz[b,f]oxepin-10-ylmethyl-prop-2-ynyl-amine, hydrogen maleate salt)
11 Oral Propranolol Versus Placebo for Early Stages of Retinopathy of Prematurity (ROP): A Pilot, Randomized and Prospective Study. Completed NCT01238471 Phase 1, Phase 2 propranolol;sucrose 5%
12 Safety and Efficacy of Propranolol Eye Drops in Newborns With Retinopathy of Premature (DROP-PROP) Completed NCT02014454 Phase 2 Propranolol eye drops
13 Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia Active, not recruiting NCT01599286 Phase 2 Carbaglu;Placebo;Standard of Care Treatment
14 A Global, Phase 1/2, Open-label, Dose Escalation Study to Evaluate the Safety, Pharmacodynamics, and Pharmacokinetics of mRNA-3927 in Participants With Propionic Acidemia Not yet recruiting NCT04159103 Phase 1, Phase 2
15 Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Terminated NCT01597440 Phase 2 N-carbamylglutamate
16 Comparison of the Hypotensive Efficacy of Propofol Infusion Versus Nitroglycerin Infusion in Functional Endoscopic Sinus Surgery Terminated NCT04220281 Phase 1, Phase 2 Propofol;Nitroglycerin
17 Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate Withdrawn NCT01341379 Phase 2 N-carbamylglutamate
18 Treatment of Malignant Pleural Mesothelioma With Gene Modified Cancer Cell Lines Unknown status NCT00006216 Phase 1 ganciclovir
19 Safety & Efficacy of Investigational Products: Ornithine Alpha-ketoglutarate, Glutamine, or Disodium Citrate on Hyperammonemia in Propionic Acidemia. Completed NCT00645879 Phase 1 ornithine alpha ketoglutarate;glutamine;disodium citrate
20 Interventional, Open-label, Multiple-immunisation Study of the Immunogenicity, Pharmacodynamics and Safety of Lu AF20513 in Patients With Mild Alzheimer's Disease or Mild Cognitive Impairment Due to Alzheimer's Disease Terminated NCT03819699 Phase 1 Lu AF20513
21 Determining the Optimal Ratio of Branched Chain Amino Acids in Medical Foods for Methylmalonic and Propionic Acidemias (MMA/PROP) Unknown status NCT03539809
22 Sensitivity to 6-n-propylthiouracil (PROP) Association With Gustin (CA6) Gene Polymorphism, Salivary Zinc and BMI in Humans Completed NCT01097915
23 The Patient-Reported Outcomes Project of HCV-TARGET (PROP UP) Completed NCT02601820
24 Pathobiology and Reversibility of Prediabetes in a Biracial Cohort (PROP-ABC) Completed NCT02027571
25 Improving Prematurity-Related Respiratory Outcomes at Vanderbilt: The Prematurity and Respiratory Outcomes Program (PROP) Completed NCT01460576
26 Bitter Taste Phenotype as an Adjunct to Behavioral Weight-loss Intervention in Women Completed NCT01856660
27 Isolite and Dental Treatment Under Conscious Sedation: a Pilot Study to Assess the Upper Airway in a Pediatric Population Completed NCT01683851
28 The Molecular Basis for a Broad Range of Phenotypes Related to hTAS2R38 Completed NCT01399944
29 Prematurity and Respiratory Outcomes Program (PROP) Core Database Protocol Completed NCT01435187
30 Evaluating Liking, Acceptability and Health Benefits of Grain Products Completed NCT01403857
31 Diabetic Genome Project: A Multi-Phase Prospective Registry to Identify Genetic Variation Among Diabetic Patients Undergoing Coronary Revascularization Completed NCT00428961
32 Prematurity and Respiratory Outcome Program: Single Center Study of Functional and Lymphocytic Markers of Respiratory Morbidity in Hyperoxic Preemies Completed NCT01607216
33 A Pilot Study Examining Use of Asynchronous and Synchronous Telepsychiatry Consultation for Skilled Nursing Facility Residents Completed NCT02537093
34 Active Smarter Kids: A Cluster-randomized Controlled Trial Investigating the Effect of Daily Physical Activity on Children's Academic Performance and on Risk Factors for Lifestyle-related Non-communicable Diseases Completed NCT02132494
35 A Randomized, Placebo-Controlled, Blinded Study Of Acupuncture Therapy In Mucositis-Related Pain In Patients Undergoing Hematopoietic Stem Cell Transplantation Completed NCT00060021
36 Investigation of the Genetic and Environmental Determinants of MP Including Response to Supplementation Completed NCT01778231
37 Cluster Randomized Trial of Community Case Management of the Severe Pneumonia With Oral Amoxicillin in Children 2-59 Months of Age in Hala and Matiari District, Pakistan Completed NCT01192789 Amoxicillin
38 Bitter Taste and Allele-specific Expression of the Human TAS2R38 Gene Completed NCT02766959
39 Effects of Stevia on Satiety and Eating Attitudes in Healthy, Overweight and Obese Adults: A Pilot Study Completed NCT01115088
40 Chart Review of Patients Who Have the Amish/Mennonite Variant of Propionic Acidemia Recruiting NCT03159026
41 The Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia Recruiting NCT02890342
42 A Longitudinal, Exploratory, Natural History Study to Further Characterize and Describe the Signs and Symptoms of Patients With Organic Acidemias Recruiting NCT03484767
43 Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach Recruiting NCT04176523 Carglumic Acid
44 Voices From the Black Community: Beliefs and Attitudes on Participating in Research Studies for Chronic Hepatitis C Recruiting NCT04202081
45 Noninvasive Home Assessment of Cardiac Filling Pressure to Identify Heart Failure Patients at High Risk for Readmission Recruiting NCT04223271
46 Alleviating Caregivers' Stress Through an E-painting Mobile Application Recruiting NCT03850613
47 Vegetables Intake and Polymorphism TAS2R38 Gene by Healthy Adults Active, not recruiting NCT04145453
48 Taste Perception, Salivary Proteins & the Oral Microbiome Active, not recruiting NCT04107688
49 Prospective Observational Study Of Patients With Asymptomatic Centrally Located Advanced NSCLC Who Are Not Suitable For Curative Treatment Active, not recruiting NCT01279408
50 A PATH (Promoting Activity and Trajectories of Health) for Children Active, not recruiting NCT03189862

Search NIH Clinical Center for Propionic Acidemia

Cochrane evidence based reviews: propionic acidemia

Genetic Tests for Propionic Acidemia

Genetic tests related to Propionic Acidemia:

# Genetic test Affiliating Genes
1 Propionic Acidemia 29

Anatomical Context for Propionic Acidemia

MalaCards organs/tissues related to Propionic Acidemia:

40
Liver, Heart, Brain, Eye, Testes, Cortex, Endothelial

Publications for Propionic Acidemia

Articles related to Propionic Acidemia:

(show top 50) (show all 682)
# Title Authors PMID Year
1
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia. 61 54 6 56
10502773 1999
2
New splicing mutations in propionic acidemia. 54 61 56 24
17051315 2006
3
Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications. 61 24 6
12189489 2002
4
High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase. 6 24 61
10820128 2000
5
Infectious complications of propionic acidemia in Saudia Arabia. 61 56 24
9727749 1998
6
Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia. 56 24 61
1481826 1992
7
Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein. 54 61 6
10101253 1999
8
Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene. 61 54 6
9887338 1999
9
Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients. 54 61 6
9683601 1998
10
Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients. 61 6 54
9385377 1997
11
Defective propionate carboxylation in ketotic hyperglycinaemia. 24 56
4180220 1969
12
Nutrition management guideline for propionic acidemia: An evidence- and consensus-based approach. 61 56
30879957 2019
13
Propionic Acidemia 61 6
22593918 2012
14
High frequency of large genomic deletions in the PCCA gene causing propionic acidemia. 54 61 24
19157943 2009
15
Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia. 61 24 54
18790721 2008
16
Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA. 6 61
17966092 2007
17
Living donor liver transplantation for pediatric patients with inheritable metabolic disorders. 54 61 24
16212637 2005
18
Propionic acidemia: mutation update and functional and structural effects of the variant alleles. 61 54 24
15464417 2004
19
Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes. 6 61
15235904 2004
20
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. 61 54 24
15059621 2004
21
Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase. 54 61 24
11749052 2001
22
Structure of the PCCA gene and distribution of mutations causing propionic acidemia. 24 54 61
11592820 2001
23
The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele. 6 61
8225321 1993
24
Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients. 61 56
2037281 1991
25
An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia. 6 61
2154743 1990
26
Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients. 56 61
2741949 1989
27
The neuropathology of propionic acidemia. 61 56
6860407 1983
28
Pitfalls in the prenatal diagnosis of propionic acidemia. 61 56
6934053 1980
29
Biotin-responsive propionic acidemia presenting as the rumination syndrome. 61 56
632987 1978
30
Propionicacidemia (ketotic hyperglycinemia): dietary treatment resulting in normal growth and development. 61 56
4815259 1974
31
Propionic acidemia in patients with ketotic hyperglycinemia. 61 56
5581587 1971
32
Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia". 61 56
5101292 1971
33
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening? 61 52
31828787 2020
34
Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies. 52 61
31119742 2019
35
Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications. 52 61
31119747 2019
36
Optic neuropathy in methylmalonic acidemia and propionic acidemia. 24 61
26209586 2016
37
Cost-effectiveness of liver transplantation in methylmalonic and propionic acidemias. 61 24
25990417 2015
38
Propionic acidemia in the Arab World. 61 24
25865301 2015
39
Early and late complications after liver transplantation for propionic acidemia in children: a two centers study. 61 24
25683683 2015
40
Two frequent mutations associated with the classic form of propionic acidemia in Taiwan. 24 61
24863100 2014
41
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. 24 61
25205257 2014
42
Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy. 61 24
24916042 2014
43
Acute psychosis in propionic acidemia: 2 case reports. 61 24
24334345 2014
44
Propionic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorder. 61 24
24665329 2014
45
Chronic kidney disease in an adult with propionic acidemia. 61 24
23756992 2014
46
Propionic acidemia and optic neuropathy: a report of two cases. 61 24
23818179 2014
47
Late optic neuropathy in propionic acidemia following surgical intervention. 24 61
23149616 2013
48
Survey of health status and complications among propionic acidemia patients. 24 61
22678880 2012
49
Propionic acidemia associated with visual hallucinations. 61 24
22156789 2012
50
A series of pregnancies in women with inherited metabolic disease. 61 24
21918856 2012

Variations for Propionic Acidemia

ClinVar genetic disease variations for Propionic Acidemia:

6 (show top 50) (show all 431) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PCCB NM_000532.5(PCCB):c.638del (p.Phe213fs)deletion Pathogenic 459942 rs1196443543 3:136002772-136002772 3:136283930-136283930
2 PCCB NM_000532.4(PCCB):c.1218_1231delGGGCATCATCCGGCins12 (p.?)indel Pathogenic 496028 3:136046016-136046029 3:136327174-136327187
3 PCCB NM_000532.5(PCCB):c.966+1G>TSNV Pathogenic 554742 rs1385850128 3:136019954-136019954 3:136301112-136301112
4 PCCA NM_000282.4(PCCA):c.231+1G>CSNV Pathogenic 550113 rs972937270 13:100764143-100764143 13:100111889-100111889
5 PCCB NM_000532.5(PCCB):c.825dup (p.Asn276fs)duplication Pathogenic 567152 rs748393514 3:136016854-136016855 3:136298012-136298013
6 UQCRFS1 NM_006003.3(UQCRFS1):c.215-1G>CSNV Pathogenic 619297 rs1568344751 19:29699066-29699066 19:29208159-29208159
7 UQCRFS1 NM_006003.3(UQCRFS1):c.610C>T (p.Arg204Ter)SNV Pathogenic 619499 rs1242465339 19:29698670-29698670 19:29207763-29207763
8 UQCRFS1 NM_006003.3(UQCRFS1):c.41T>A (p.Val14Asp)SNV Pathogenic 619501 rs1568346416 19:29703985-29703985 19:29213078-29213078
9 PCCB NM_000532.5(PCCB):c.184-49_188delinsTGCTTTGCTTGCTTTGCTTTGCTTTindel Pathogenic 623324 rs1559995259 3:135974649-135974702 3:136255807-136255860
10 PCCA NM_000282.4(PCCA):c.415-2A>CSNV Pathogenic 632933 rs746286209 13:100809539-100809539 13:100157285-100157285
11 PCCA NM_000282.4(PCCA):c.656dup (p.Ala220fs)duplication Pathogenic 635308 13:100909865-100909866 13:100257611-100257612
12 PCCB NM_000532.5(PCCB):c.839del (p.Leu280fs)deletion Pathogenic 638039 3:136016869-136016869 3:136298027-136298027
13 PCCB NM_000532.5(PCCB):c.1220del (p.Gly407fs)deletion Pathogenic 638041 3:136046014-136046014 3:136327172-136327172
14 PCCA NM_000282.4(PCCA):c.2T>A (p.Met1Lys)SNV Pathogenic 638018 13:100741376-100741376 13:100089122-100089122
15 PCCA NM_000282.4(PCCA):c.43G>T (p.Gly15Ter)SNV Pathogenic 638019 13:100741417-100741417 13:100089163-100089163
16 PCCA NM_000282.4(PCCA):c.305del (p.His102fs)deletion Pathogenic 638020 13:100807237-100807237 13:100154983-100154983
17 PCCA NM_000282.4(PCCA):c.332_333GT[1] (p.Val112fs)short repeat Pathogenic 638021 13:100807263-100807264 13:100155009-100155010
18 PCCA NM_000282.4(PCCA):c.734C>G (p.Ser245Ter)SNV Pathogenic 638024 13:100915000-100915000 13:100262746-100262746
19 PCCA NM_000282.4(PCCA):c.1330dup (p.Tyr444fs)duplication Pathogenic 638030 13:100959488-100959489 13:100307234-100307235
20 PCCA NM_000282.4(PCCA):c.1920del (p.Arg641fs)deletion Pathogenic 638031 13:101167700-101167700 13:100515446-100515446
21 PCCB NM_000532.5(PCCB):c.968_970TTG[1] (p.Val324del)short repeat Pathogenic 638040 3:136035783-136035785 3:136316941-136316943
22 PCCA NM_000282.4(PCCA):c.131delinsATT (p.Cys44fs)indel Pathogenic 638045 13:100755162-100755162 13:100102908-100102908
23 PCCB NM_000532.5(PCCB):c.1172_1173del (p.Phe391fs)deletion Pathogenic 659170 3:136045724-136045725 3:136326882-136326883
24 PCCB NM_000532.5(PCCB):c.1433_1436dup (p.Glu480fs)duplication Pathogenic 645138 3:136047633-136047634 3:136328791-136328792
25 PCCA NM_000282.4(PCCA):c.24_46dup (p.Arg16fs)duplication Pathogenic 659677 13:100741393-100741394 13:100089139-100089140
26 PCCA NM_000282.4(PCCA):c.862_863AG[2] (p.Glu289fs)short repeat Pathogenic 663694 13:100920985-100920986 13:100268731-100268732
27 PCCB NC_000003.12:g.(?_136250366)_(136250568_?)deldeletion Pathogenic 653524 3:135969208-135969410 3:136250366-136250568
28 PCCA NC_000013.11:g.(?_100111831)_(100112071_?)deldeletion Pathogenic 650185 13:100764085-100764325 13:100111831-100112071
29 PCCA NC_000013.11:g.(?_100330541)_(100368594_?)deldeletion Pathogenic 650714 13:100982795-101020848 13:100330541-100368594
30 PCCA NC_000013.11:g.(?_100111821)_(100112081_?)deldeletion Pathogenic 654095 13:100764075-100764335 13:100111821-100112081
31 PCCA NC_000013.11:g.(?_100527665)_(100530447_?)deldeletion Pathogenic 657918 13:101179919-101182701 13:100527665-100530447
32 PCCB NM_000532.5(PCCB):c.1091-8_1091-3deldeletion Pathogenic 802010 3:136045634-136045639 3:136326792-136326797
33 PCCB NM_000532.5(PCCB):c.1207C>T (p.Gln403Ter)SNV Pathogenic 802011 3:136046005-136046005 3:136327163-136327163
34 PCCB NM_000532.5(PCCB):c.1223del (p.Ile408fs)deletion Pathogenic 802012 3:136046021-136046021 3:136327179-136327179
35 PCCA NM_000282.4(PCCA):c.1994dup (p.Met666fs)duplication Pathogenic 802995 13:101167771-101167772 13:100515517-100515518
36 PCCA NM_000282.4(PCCA):c.446del (p.Asn149fs)deletion Pathogenic 830056 13:100809569-100809569 13:100157315-100157315
37 PCCA NM_000282.4(PCCA):c.1845+1G>ASNV Pathogenic 830055 13:101077986-101077986 13:100425732-100425732
38 PCCB NC_000003.12:g.(?_136316921)_(136317084_?)deldeletion Pathogenic 831645 3:136035763-136035926
39 PCCA NC_000013.11:g.(?_100209322)_(100235888_?)deldeletion Pathogenic 833246 13:100861576-100888142
40 PCCA NC_000013.11:g.(?_100268679)_(100268793_?)deldeletion Pathogenic 831931 13:100920933-100921047
41 PCCA NC_000013.11:g.(?_100527655)_(100530186_?)deldeletion Pathogenic 831847 13:101179909-101182440
42 PCCB NM_000532.5(PCCB):c.152dup (p.Gln52fs)duplication Pathogenic 838787 3:135969364-135969365 3:136250522-136250523
43 PCCB NM_000532.5(PCCB):c.136_139delinsCCT (p.Ala46fs)indel Pathogenic 666048 3:135969353-135969356 3:136250511-136250514
44 PCCA NM_000282.4(PCCA):c.145del (p.Arg49fs)deletion Pathogenic 843070 13:100755174-100755174 13:100102920-100102920
45 PCCA NM_000282.4(PCCA):c.451G>T (p.Glu151Ter)SNV Pathogenic 850325 13:100809577-100809577 13:100157323-100157323
46 PCCA NM_000282.4(PCCA):c.556A>T (p.Lys186Ter)SNV Pathogenic 853682 13:100861673-100861673 13:100209419-100209419
47 PCCA NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter)SNV Pathogenic 851298 13:100959449-100959449 13:100307195-100307195
48 PCCB NM_000532.5(PCCB):c.654+462A>GSNV Pathogenic 12019 3:136003251-136003251 3:136284409-136284409
49 PCCA PCCA, 4-BP DEL, 1824IVS, +3deletion Pathogenic 12020
50 PCCA PCCA, 9-BP DEL, 1771IVS, -2deletion Pathogenic 12021

UniProtKB/Swiss-Prot genetic disease variations for Propionic Acidemia:

73 (show all 42)
# Symbol AA change Variation ID SNP ID
1 PCCA p.Ala75Pro VAR_009087 rs794727479
2 PCCA p.Arg77Trp VAR_009088 rs141371306
3 PCCA p.Ala138Thr VAR_009089 rs202247814
4 PCCA p.Ile164Thr VAR_009090 rs202247815
5 PCCA p.Met229Lys VAR_009091 rs375628794
6 PCCA p.Gln297Arg VAR_009092
7 PCCA p.Asp368Gly VAR_009093
8 PCCA p.Met373Lys VAR_009094 rs121964958
9 PCCA p.Gly379Val VAR_009095 rs794727087
10 PCCA p.Arg399Gln VAR_009096 rs130190462
11 PCCA p.Pro423Leu VAR_009097 rs144385889
12 PCCA p.Trp559Leu VAR_009099 rs118169528
13 PCCA p.Gly631Arg VAR_009100 rs796052018
14 PCCA p.Gly668Arg VAR_009101 rs771438170
15 PCCA p.Gly197Glu VAR_023843
16 PCCA p.Cys398Arg VAR_023844
17 PCCB p.Arg44Pro VAR_000271
18 PCCB p.Ser106Arg VAR_000272
19 PCCB p.Gly131Arg VAR_000273
20 PCCB p.Arg165Trp VAR_000274 rs879253815
21 PCCB p.Glu168Lys VAR_000275 rs121964960
22 PCCB p.Gly198Asp VAR_000276 rs762354873
23 PCCB p.Arg410Trp VAR_000278 rs121964959
24 PCCB p.Arg512Cys VAR_000280 rs186710233
25 PCCB p.Leu519Pro VAR_000281 rs202247822
26 PCCB p.Leu17Met VAR_009080 rs200185747
27 PCCB p.Val205Asp VAR_009082
28 PCCB p.Pro228Leu VAR_009083 rs374722096
29 PCCB p.Thr428Ile VAR_009084 rs111033542
30 PCCB p.Met442Thr VAR_009085
31 PCCB p.Asn536Asp VAR_009086 rs202247823
32 PCCB p.Arg67Ser VAR_023847 rs747053913
33 PCCB p.Val107Met VAR_023848 rs155377411
34 PCCB p.Gly112Asp VAR_023849 rs202247818
35 PCCB p.Ala153Pro VAR_023850 rs202247819
36 PCCB p.Arg165Gln VAR_023851 rs130471404
37 PCCB p.Gly188Arg VAR_023852 rs746102997
38 PCCB p.Gly246Val VAR_023853
39 PCCB p.Ile430Leu VAR_023855
40 PCCB p.Tyr435Cys VAR_023856 rs121964961
41 PCCB p.Tyr439Cys VAR_023857 rs769521436
42 PCCB p.Ala468Thr VAR_023858 rs775563122

Expression for Propionic Acidemia

Search GEO for disease gene expression data for Propionic Acidemia.

Pathways for Propionic Acidemia

Pathways related to Propionic Acidemia according to KEGG:

36
# Name Kegg Source Accession
1 Valine, leucine and isoleucine degradation hsa00280
2 Propanoate metabolism hsa00640

Pathways related to Propionic Acidemia according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.9 UQCRFS1 PCCB PCCA OTC NAGS MMUT
2
Show member pathways
12.79 PCCB PCCA MMUT MMAA MCEE HMGCL
3
Show member pathways
12.61 PCCB PCCA MMUT MMADHC MMAB MMAA
4
Show member pathways
11.88 PCCB PCCA MMUT MMADHC MMAA
5 11.8 OTC MMUT HMGCL HIBCH CPS1 ASS1
6
Show member pathways
11.78 PCCB PCCA MMUT MCEE HMGCL HIBCH
7
Show member pathways
11.65 PCCB PCCA MMUT MMAA MCEE
8
Show member pathways
11.6 PCCB PCCA OTC NAGS MMUT MCEE
9 11.27 PCCB PCCA MMUT MCEE
10
Show member pathways
11.19 OTC NAGS CPS1 ASS1
11
Show member pathways
11.14 OTC NAGS CPS1 ASS1
12
Show member pathways
11.1 PCCA MCEE BCKDHB
13 10.98 MMUT MMADHC MMAB MMAA LMBRD1
14 10.96 PCCB PCCA MMUT MCEE HIBCH BCKDHB
15
Show member pathways
10.64 PCCB PCCA
16
Show member pathways
10.15 MMUT MMAA

GO Terms for Propionic Acidemia

Cellular components related to Propionic Acidemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.77 PCCB PCCA OTC NAGS MMUT MMAB
2 mitochondrion GO:0005739 9.55 UQCRFS1 PCCB PCCA OTC NAGS MMUT
3 lysosome GO:0005764 9.46 MMD LMBRD1 BLOC1S1 ASS1

Biological processes related to Propionic Acidemia according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 response to nutrient GO:0007584 9.71 HMGCL BCKDHB ASS1
2 liver development GO:0001889 9.71 OTC HMGCL CPS1 ASS1
3 response to zinc ion GO:0010043 9.65 OTC CPS1 ASS1
4 response to steroid hormone GO:0048545 9.59 CPS1 ASS1
5 cellular response to glucagon stimulus GO:0071377 9.58 CPS1 ASS1
6 response to fatty acid GO:0070542 9.58 HMGCL ASS1
7 branched-chain amino acid catabolic process GO:0009083 9.57 HIBCH BCKDHB
8 response to growth hormone GO:0060416 9.56 CPS1 ASS1
9 response to amine GO:0014075 9.55 CPS1 ASS1
10 midgut development GO:0007494 9.54 OTC CPS1 ASS1
11 homocysteine metabolic process GO:0050667 9.52 MMUT CPS1
12 citrulline biosynthetic process GO:0019240 9.51 OTC CPS1
13 biotin metabolic process GO:0006768 9.5 PCCB PCCA HLCS
14 cellular response to oleic acid GO:0071400 9.49 CPS1 ASS1
15 response to biotin GO:0070781 9.46 OTC HLCS
16 urea cycle GO:0000050 9.46 OTC NAGS CPS1 ASS1
17 anion homeostasis GO:0055081 9.43 OTC CPS1
18 arginine biosynthetic process GO:0006526 9.43 OTC NAGS ASS1
19 cobalamin metabolic process GO:0009235 9.35 MMUT MMADHC MMAB MMAA LMBRD1
20 short-chain fatty acid catabolic process GO:0019626 9.02 PCCB PCCA MMUT MMAA MCEE

Molecular functions related to Propionic Acidemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.98 PCCB PCCA MMAB MMAA HLCS CPS1
2 catalytic activity GO:0003824 9.77 MMUT HMGCL HLCS CPS1 BCKDHB
3 amino acid binding GO:0016597 9.4 OTC ASS1
4 modified amino acid binding GO:0072341 9.32 MMUT CPS1
5 biotin binding GO:0009374 9.26 PCCA HLCS
6 propionyl-CoA carboxylase activity GO:0004658 9.16 PCCB PCCA
7 cobalamin binding GO:0031419 9.13 MMUT MMAB LMBRD1
8 ligase activity GO:0016874 9.02 PCCB PCCA HLCS CPS1 ASS1

Sources for Propionic Acidemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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