MCID: AMN012
MIFTS: 21

Aminoacidopathies

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Aminoacidopathies

MalaCards integrated aliases for Aminoacidopathies:

Name: Aminoacidopathies 52
Amino Acid Metabolism, Inborn Errors 71
Amino Acid Disorders 52

Classifications:



External Ids:

UMLS 71 C0002514

Summaries for Aminoacidopathies

MalaCards based summary : Aminoacidopathies, also known as amino acid metabolism, inborn errors, is related to mitochondrial dna depletion syndrome 5 and phenylketonuria. The drugs Biotin and Vitamin B7 have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and breast.

Related Diseases for Aminoacidopathies

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 5 12.0
2 phenylketonuria 10.6
3 maple syrup urine disease 10.4
4 tyrosinemia 10.4
5 inherited metabolic disorder 10.4
6 homocystinuria 10.3
7 argininosuccinic aciduria 10.3
8 cystinuria 10.2
9 histidinemia 10.2
10 tyrosinemia, type ii 10.2
11 methylmalonic acidemia 10.2
12 mitochondrial encephalomyopathy 10.2
13 ornithinemia 10.2
14 argininemia 10.0
15 citrullinemia, classic 10.0
16 cystathioninuria 10.0
17 hartnup disorder 10.0
18 homocystinuria due to cystathionine beta-synthase deficiency 10.0
19 n-acetylglutamate synthase deficiency 10.0
20 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 10.0
21 iminoglycinuria 10.0
22 tyrosinemia, type i 10.0
23 branchiootic syndrome 1 10.0
24 propionic acidemia 10.0
25 alacrima, achalasia, and mental retardation syndrome 10.0
26 carbonic anhydrase va deficiency, hyperammonemia due to 10.0
27 hypermethioninemia 10.0
28 organic acidemia 10.0
29 hyperprolinemia 10.0
30 rickets 10.0
31 lactic acidosis 10.0
32 hyperglycemia 10.0
33 albinism 10.0
34 hyperphenylalaninemia 10.0
35 isolated methylmalonic acidemia 10.0
36 hyperglycinuria 9.7
37 alkaptonuria 9.7
38 dicarboxylic aminoaciduria 9.7
39 hydroxykynureninuria 9.7
40 hydroxyprolinemia 9.7
41 threoninemia 9.7
42 3-methylcrotonyl-coa carboxylase deficiency 9.7
43 vascular disease 9.7
44 peptic ulcer disease 9.7
45 hypoglycemia 9.7
46 aminoaciduria 9.7
47 acyl-coa dehydrogenase deficiency 9.7

Graphical network of the top 20 diseases related to Aminoacidopathies:



Diseases related to Aminoacidopathies

Symptoms & Phenotypes for Aminoacidopathies

Drugs & Therapeutics for Aminoacidopathies

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

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Biotin Approved, Investigational, Nutraceutical Phase 3 58-85-5 171548
2 Vitamin B7 Phase 3
3
Phenylacetic acid Approved Phase 2 103-82-2 999
4
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
5
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
6
carbamide peroxide Approved Phase 2 124-43-6
7
Nitric Oxide Approved Phase 2 10102-43-9 145068
8
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
9 Anti-Infective Agents Phase 2
10 4-phenylbutyric acid Phase 2
11 Antifungal Agents Phase 2
12 Sodium Benzoate Phase 2
13 Antimetabolites Phase 2
14 Liver Extracts Phase 2
15
Arginine Investigational, Nutraceutical Phase 2 74-79-3 6322
16
Ornithine Approved, Nutraceutical Phase 1 70-26-8, 3184-13-2 6262
17 Dopa Decarboxylase Phase 1
18 Antiparkinson Agents Phase 1
19 Dihydroxyphenylalanine Phase 1
20
Molybdenum Approved 7439-98-7 185498
21
Methylcobalamin Approved, Investigational 13422-55-4
22
Hydroxocobalamin Approved 13422-51-0 15589840 11953898
23
Metronidazole Approved 443-48-1 4173
24
Methionine Approved, Nutraceutical 63-68-3 6137
25
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
26
Cobalamin Experimental 13408-78-1 6857388
27 Lecithin
28 Vitamins
29 Vitamin B Complex
30 Vitamin B 12
31 carnitine
32 Vitamin B12

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 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
2 Phase II Study of Sodium Phenylbutyrate, Sodium Benzoate, Sodium Phenylacetate, and Dietary Intervention for Urea Cycle Disorders Completed NCT00004767 Phase 2 Sodium Benzoate;Sodium Phenylacetate;Sodium Phenylbutyrate
3 A Randomized, Double-Blind, Crossover Study of Sodium Phenylbutyrate and Low-Dose Arginine Compared to High-Dose Arginine Alone on Liver Function, Ureagenesis and Subsequent Nitric Oxide Production in Patients With Argininosuccinic Aciduria Completed NCT00345605 Phase 2 Sodium Phenylbutyrate;Arginine
4 A Global, Phase 1/2, Open Label, Dose Escalation Study to Evaluate the Safety, Pharmacodynamics, and Pharmacokinetics of mRNA-3704 in Patients With Isolated Methylmalonic Acidemia Due to Methylmalonyl-CoA Mutase Deficiency Active, not recruiting NCT03810690 Phase 1, Phase 2
5 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
6 A Phase 2 Study of Ataluren (PTC124®) as an Oral Treatment for Nonsense Mutation Methylmalonic Acidemia Terminated NCT01141075 Phase 2 Ataluren (PTC124)
7 Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Terminated NCT01597440 Phase 2 N-carbamylglutamate
8 Therapeutic and Metabolic Studies of Urea Cycle Disorders: Part A: Nitrogen Flux and Ureagenesis; Part B (Closed): Phase I Adenovirus Vector-Mediated Gene Therapy for Ornithine Transcarbamylase Deficiency Unknown status NCT00004307 Phase 1
9 SIngle-Stage, Open-Label, Safety and Efficacy Study of Adeno-Associated Virus Encoding Human Aromatic L-Amino Acid Decarboxylase by Magnetic Resonance MR-guided Infusion Into Midbrain in Pediatric Patients With AADC Deficiency Recruiting NCT02852213 Phase 1 AAV2-hAADC
10 Review of French Cases of Glutathione Synthetase Deficiency Unknown status NCT02830867
11 A Natural History Study Of Molybdenum Cofactor And Isolated Sulfite Oxidase Deficiencies Completed NCT01735188
12 Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency Completed NCT02399761
13 Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency Completed NCT00006061 phosphatidylcholine
14 PET Imaging of GABA Receptors in Succinic Semialdehyde Dehydrogenase Deficiency Completed NCT00246870
15 Cortical Excitability in Succinic Semialdehyde Dehydrogenase Deficiency Completed NCT00132366
16 Longitudinal Study of Urea Cycle Disorders Recruiting NCT00237315
17 Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders Recruiting NCT00078078
18 Evaluate the Long Term Effectiveness & Safety of the Use of Carglumic Acid (Carbaglu®) in Patients With Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA). Enrolling by invitation NCT04284917 Carglumic Acid (Carbaglu®)

Search NIH Clinical Center for Aminoacidopathies

Genetic Tests for Aminoacidopathies

Anatomical Context for Aminoacidopathies

MalaCards organs/tissues related to Aminoacidopathies:

40
Liver, Testes, Breast

Publications for Aminoacidopathies

Articles related to Aminoacidopathies:

(show top 50) (show all 138)
# Title Authors PMID Year
1
Neonatal Nonketotic Hyperglycinemia: A Rare Case from Pakistan. 61
32280576 2020
2
Diagnosis of inherited metabolic disorders by selective metabolite testing: three years' experience at a tertiary care center in Rawalpindi. 61
31954023 2020
3
Use of complementary and alternative medicine in patients with inborn errors of metabolism: A single-center study. 61
32071845 2020
4
Nutrition and medical support during pregnancy and lactation in women with inborn errors of intermediary metabolism disorders (IEMDs). 61
31804959 2020
5
Screening for organic acidurias and aminoacidopathies in high-risk Brazilian patients: Eleven-year experience of a reference center. 61
30985856 2019
6
Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan. 61
31379716 2019
7
High Risk Stratified Neonatal Screening. 61
29542068 2018
8
Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years' experience from a reference center. 61
30115094 2018
9
Inhibiting neutral amino acid transport for the treatment of phenylketonuria. 61
30046012 2018
10
Neuroimaging Findings of Organic Acidemias and Aminoacidopathies. 61
29757724 2018
11
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options. 61
29094226 2018
12
An Overview of Traditional and Novel Therapeutic Options for the Management of Phenylketonuria. 61
30055544 2018
13
INITIAL CLINICAL PRESENTATION IN CASES OF INBORN ERRORS OF METABOLISM IN A REFERENCE CHILDREN'S HOSPITAL: STILL A DIAGNOSTIC CHALLENGE. 61
28977297 2017
14
Integration of Proteomics and Metabolomics in Exploring Genetic and Rare Metabolic Diseases. 61
28868294 2017
15
Introduction to Biochemical Genetics from the Clinical Laboratory Prospective: A Case-Based Discussion. 61
30800788 2017
16
Breast milk feeding in infants with inherited metabolic disorders other than phenylketonuria - a 10-year single-center experience. 61
27564695 2017
17
Gas chromatography/mass spectrometry-based urine metabolome study in children for inborn errors of metabolism: An Indian experience. 61
27784639 2017
18
Demographic and clinical characteristics of the children with aminoacidopathy in Isfahan Province, Central Iran in 2007-2015. 61
27730080 2016
19
Antenatal manifestations of inborn errors of metabolism: biological diagnosis. 61
27393412 2016
20
Neurometabolic diseases of childhood. 61
26346153 2015
21
Baseline separation of amino acid biomarkers of hepatocellular carcinoma by polyvinylpyrrolidone-filled capillary electrophoresis with light-emitting diode-induced fluorescence in the presence of mixed micelles. 61
25460547 2015
22
Targeting specific nutrient deficiencies in protein-restricted diets: some practical facts in PKU dietary management. 61
25277724 2014
23
[Characterization of inborn errors of intermediary metabolism in mexican patients]. 61
24140120 2014
24
Single amino acid supplementation in aminoacidopathies: a systematic review. 61
24422943 2014
25
Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: a twelve-year experience. 61
23994778 2013
26
[Clinical, biochemical and genetic analysis of the mitochondrial disorders presenting with cardiac damage]. 61
24495761 2013
27
Clinical neurogenetics: neurologic presentations of metabolic disorders. 61
24176422 2013
28
Neurodegenerative disorders and metabolic disease. 61
23698595 2013
29
[Expanded newborn screening in the Region of Murcia, Spain. Three-years experience]. 61
22137990 2012
30
[Prenatal symptoms and diagnosis of inherited metabolic diseases]. 61
22884749 2012
31
Genetics and metabolic cardiomyopathies. 61
22936369 2012
32
[Amino acids in cerebrospinal fluid and plasma: its usefulness in the study of neuropaediatric diseases]. 61
22451125 2012
33
Aminoacidopathies and organic acidurias in Tunisia: a retrospective survey over 23 years. 61
22481200 2012
34
Analysis of the mitochondrial complex I-V enzyme activities of peripheral leukocytes in oxidative phosphorylation disorders. 61
21540367 2011
35
99-mTc-HMPAO single photon emission computed tomography examinations in genetically determined neurometabolic disorders. 61
19579665 2009
36
[Inborn errors of metabolism in adults]. 61
19178907 2009
37
Selective screening for organic acidemias by urine organic acid GC-MS analysis in Brazil: fifteen-year experience. 61
18992233 2009
38
Spectrum of inherited metabolic disorders in Malaysia. 61
19904455 2008
39
Quebec neonatal mass urinary screening programme: from micromolecules to macromolecules. 61
17570073 2007
40
On-capillary derivatization and analysis of amino acids in human plasma by capillary electrophoresis with laser-induced fluorescence detection: application to diagnosis of aminoacidopathies. 61
16800027 2006
41
Clinical approach to treatable inborn metabolic diseases: an introduction. 61
16763886 2006
42
[Acrodermatitis enteropathica-like syndrome secondary to branched-chain amino acid deficiency during treatment of maple syrup urine disease]. 61
16733455 2006
43
The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005. 61
16601872 2006
44
Subcutaneous microdialysis for children - safe biochemical tissue monitoring based on a minimal traumatizing no touch insertion technique. 61
16287603 2005
45
Determination of plasma amino acids by fluorescent derivatization and reversed-phase liquid chromatographic separation. 61
15074468 2004
46
[Model project for reorganising of newborn screening]. 61
12649792 2003
47
HPLC method for amino acids profile in biological fluids and inborn metabolic disorders of aminoacidopathies. 61
23105346 2002
48
[Abnormal antioxidant system in inborn errors of intermediary metabolism]. 61
12134298 2002
49
Quantitative amino acid analysis using a Beckman system gold HPLC 126AA analyzer. 61
11580921 2001
50
Isovaleric acidemia with promyelocytic myeloproliferative syndrome. 61
10191353 1999

Variations for Aminoacidopathies

Expression for Aminoacidopathies

Search GEO for disease gene expression data for Aminoacidopathies.

Pathways for Aminoacidopathies

GO Terms for Aminoacidopathies

Sources for Aminoacidopathies

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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