MCID: AMN002
MIFTS: 47

Amino Acid Metabolic Disorder malady

Categories: Metabolic diseases

Aliases & Classifications for Amino Acid Metabolic Disorder

Aliases & Descriptions for Amino Acid Metabolic Disorder:

Name: Amino Acid Metabolic Disorder 12 14
Amino Acid Metabolism, Inborn Errors 42 69
Inborn Errors of Amino Acid Metabolism 12
Disorder of Amino Acid Metabolism 29
Amino Acid Metabolism Disorders 41

Classifications:



External Ids:

Disease Ontology 12 DOID:9252
ICD10 33 E72.9 E72 E72.8
ICD9CM 35 270 270.9
MeSH 42 D000592
NCIt 47 C97090
UMLS 69 C0002514

Summaries for Amino Acid Metabolic Disorder

MedlinePlus : 41 metabolism is the process your body uses to make energy from the food you eat. food is made up of proteins, carbohydrates, and fats. your digestive system breaks the food parts down into sugars and acids, your body's fuel. your body can use this fuel right away, or it can store the energy in your body. if you have a metabolic disorder, something goes wrong with this process. one group of these disorders is amino acid metabolism disorders. they include phenylketonuria (pku) and maple syrup urine disease. amino acids are "building blocks" that join together to form proteins. if you have one of these disorders, your body may have trouble breaking down certain amino acids. or there may be a problem getting the amino acids into your cells. these problems cause a buildup of harmful substances in your body. that can lead to serious, sometimes life-threatening, health problems. these disorders are usually inherited. a baby who is born with one may not have any symptoms right away. because the disorders can be so serious, early diagnosis and treatment are critical. newborn babies get screened for many of them, using blood tests. treatments may include special diets, medicines, and supplements. some babies may also need additional treatments if there are complications.

MalaCards based summary : Amino Acid Metabolic Disorder, also known as amino acid metabolism, inborn errors, is related to homocystinuria due to mthfr deficiency and methylmalonic aciduria and homocystinuria, cblc type. An important gene associated with Amino Acid Metabolic Disorder is MTHFR (Methylenetetrahydrofolate Reductase), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Dopamine and Zinc have been mentioned in the context of this disorder. Affiliated tissues include testes, and related phenotypes are growth/size/body region and homeostasis/metabolism

Disease Ontology : 12 An inherited metabolic disorders which impair the synthesis and degradation of amino acids.

Related Diseases for Amino Acid Metabolic Disorder

Diseases related to Amino Acid Metabolic Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 115)
id Related Disease Score Top Affiliating Genes
1 homocystinuria due to mthfr deficiency 30.1 MTHFR MTR
2 methylmalonic aciduria and homocystinuria, cblc type 29.7 CBS MMACHC MMD MTR
3 inborn amino acid metabolism disorder 12.2
4 aminoacidopathies 11.3
5 cystinuria 11.3
6 hyperlysinemia 11.2
7 urea cycle disorder 11.2
8 carbamoylphosphate synthetase i deficiency 11.2
9 glycine encephalopathy 11.2
10 alkaptonuria 11.2
11 hartnup disorder 11.2
12 argininosuccinic aciduria 11.2
13 lysinuric protein intolerance 11.2
14 methylmalonyl-coa epimerase deficiency 11.1
15 hydroxykynureninuria 11.1
16 mild phenylketonuria 11.1
17 phenylketonuria 11.0
18 carnitine deficiency, systemic primary 10.9
19 cerebral creatine deficiency syndrome 3 10.9
20 adenine phosphoribosyltransferase deficiency 10.9
21 brunner syndrome 10.9
22 hypermethioninemia 10.9
23 2-hydroxyglutaric aciduria 10.9
24 3-methylcrotonyl-coa carboxylase deficiency 10.9
25 serine deficiency 10.9
26 organic acidemia 10.9
27 gamma-amino butyric acid metabolism disorder 10.9
28 multiple carboxylase deficiency 10.9
29 homocystinuria 10.9
30 histidine metabolism disease 10.9
31 tyrosinemia 10.9
32 hyperhomocysteinemia 10.9
33 anal spasm 10.2 CBS MTHFR
34 cataract 20, multiple types 10.2 FAH HGD PAH
35 nystagmus 2, congenital, autosomal dominant 10.2 CBS MTHFR
36 fanconi anemia, complementation group l 10.2 SLC3A1 SLC7A7 SLC7A9
37 dnmt1-related dementia, deafness, and sensory neuropathy 10.2 GAMT SLC6A8
38 cdkn2a-related cutaneous malignant melanoma 10.2 MTR MUT
39 myh7-related myosin storage myopathy 10.2 CBS MTHFR MTR
40 myosclerosis, congenital 10.2 CBS MTHFR MTR
41 deafness, autosomal recessive 45 10.2 MTHFR MTR
42 autosomal dominant sideroblastic anemia 10.2 CBS MTHFR MTR
43 wandering spleen 10.2 MMAA MTR
44 coenzyme q10 deficiency disease 10.2 MTHFR MTR MUT
45 barth syndrome 10.1 GAMT SLC6A8
46 neurofibroma of the heart 10.1 CBS MTHFR MTR
47 ezh2-related overgrowth 10.1 MMACHC MTR
48 warburg micro syndrome 3 10.1 MTHFR MTR
49 cervix small cell carcinoma 10.1 CBS MTHFR MTR
50 hypotonia-cystinuria syndrome 10.1

Graphical network of the top 20 diseases related to Amino Acid Metabolic Disorder:



Diseases related to Amino Acid Metabolic Disorder

Symptoms & Phenotypes for Amino Acid Metabolic Disorder

MGI Mouse Phenotypes related to Amino Acid Metabolic Disorder:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.9 ALDH5A1 FAH GAMT HGD MMACHC MTHFR
2 homeostasis/metabolism MP:0005376 9.83 MTR MUT PAH PCCA SLC3A1 SLC6A8
3 renal/urinary system MP:0005367 9.36 ALDH5A1 FAH GAMT HGD MMACHC MUT

Drugs & Therapeutics for Amino Acid Metabolic Disorder

Drugs for Amino Acid Metabolic Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 594)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
2
Zinc Approved Phase 4,Phase 2 7440-66-6 32051 23994
3
Verapamil Approved Phase 4,Phase 3,Phase 2,Phase 1 52-53-9 2520
4
Amlodipine Approved Phase 4,Phase 2,Phase 3 88150-42-9 2162
5
Glycerol Approved, Experimental Phase 4,Phase 3,Phase 2 56-81-5 753
6
Lactulose Approved Phase 4,Phase 2 4618-18-2 11333
7
Riluzole Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 1744-22-5 5070
8
Ketamine Approved, Vet_approved Phase 4,Phase 2,Phase 1 6740-88-1 3821
9
Epirubicin Approved Phase 4 56420-45-2 41867
10
Pancrelipase Approved Phase 4 53608-75-6
11
Lamotrigine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 84057-84-1 3878
12
Carbamazepine Approved, Investigational Phase 4,Phase 3 298-46-4 2554
13
Midazolam Approved, Illicit Phase 4,Phase 3,Phase 1 59467-70-8 4192
14
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
15
Omeprazole Approved, Investigational, Vet_approved Phase 4,Phase 1 73590-58-6 4594
16
Valproic Acid Approved, Investigational Phase 4,Phase 3,Phase 1 99-66-1 3121
17
Hyaluronic acid Approved, Vet_approved Phase 4,Phase 3 9004-61-9 53477741 24759
18
Memantine Approved, Investigational Phase 4,Phase 3,Phase 2 19982-08-2 4054
19
Histamine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 75614-87-8, 51-45-6 774
20
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
21
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
22
Cysteamine Approved, Investigational Phase 4,Phase 1 60-23-1 6058
23
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
24
Benzocaine Approved Phase 4,Phase 1 1994-09-7, 94-09-7 2337
25
Dextromethorphan Approved Phase 4,Phase 3,Phase 2,Phase 1 125-71-3 5360696 5362449
26
Rifaximin Approved, Investigational Phase 4 80621-81-4 6436173
27
Guaifenesin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 93-14-1 3516
28
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2 60142-96-3 3446
29
Tolbutamide Approved Phase 4 64-77-7 5505
30
Bupropion Approved Phase 4,Phase 3 34841-39-9, 34911-55-2 444
31
Chlorzoxazone Approved Phase 4 95-25-0 2733
32
Etomidate Approved Phase 4 33125-97-2 36339 667484
33
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
34
Enalaprilat Approved Phase 4 76420-72-9 6917719
35
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
36
Cetirizine Approved Phase 4 83881-51-0 2678
37
leucovorin Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1 58-05-9 54575, 6560146 143
38
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 59-30-3 6037
39
Melatonin Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 73-31-4 896
40
Caffeine Approved, Nutraceutical Phase 4,Phase 1 58-08-2 2519
41 tannic acid Approved, Nutraceutical Phase 4,Phase 1
42
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 5538
43 pancreatin Phase 4
44 glucagon Phase 4,Phase 2,Phase 1
45 gastric inhibitory polypeptide Phase 4
46 insulin Phase 4,Phase 3,Phase 2,Phase 1
47 Analgesics Phase 4,Phase 3,Phase 1,Phase 2
48 calcium channel blockers Phase 4,Phase 2,Phase 3,Phase 1
49
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1
50 Chelating Agents Phase 4,Phase 3,Phase 1,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 525)
id Name Status NCT ID Phase
1 Mixed Meal Test in Type 1 Diabetes: Optimization of Artificial Pancreas-Pilot Study Unknown status NCT01800734 Phase 4
2 Mixed Meal Test in Type 1 Diabetes on Insulin Pump Therapy: Optimization of Artificial Pancreas Unknown status NCT02003274 Phase 4
3 The Effect Of Dual Treatment With L-Carnitine And Magnesium On Fatty Liver Unknown status NCT01956825 Phase 4
4 Vascular Effects of Sitagliptin in Diabetes Mellitus Unknown status NCT01096277 Phase 4
5 Therapeutic Efficacy of Oral L-Ornithine-L-Aspartate on Minimal Encephalopathy Unknown status NCT00896831 Phase 4
6 Efficacy of Combined Oral L-Ornithine-L-Aspartate and Lactulose in Patients With Hepatic Encephalopathy Unknown status NCT00740142 Phase 4
7 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Unknown status NCT01640678 Phase 4
8 Punchgrafting Techniques for Vitiligo Unknown status NCT01377077 Phase 4
9 Study of the Effect of Glutamine Supplementation on Chemotherapy Induced Toxicities in Breast Cancer Patients Unknown status NCT00772824 Phase 4
10 Effect of Preoperative Supplementation in Insulin Resistance Completed NCT00657124 Phase 4
11 A Study on Postmarketing Xuezhikang Capsule for Treating Dyslipidemia Completed NCT02057302 Phase 4
12 Effects of Proteins in Patients With Cirrhosis and Prior Hepatic Encephalopathy Completed NCT00955500 Phase 4
13 Effect of Arginine on Microcirculation in Patients With Diabetes Completed NCT00902616 Phase 4
14 Effects of Kuvan on Melatonin Secretion Completed NCT01617070 Phase 4
15 Antioxidant Signature in Adult Patients With Phenylketonuria Completed NCT02212288 Phase 4
16 L-ornithine L-aspartate in Overt Hepatic Encephalopathy Completed NCT01722578 Phase 4
17 Uremic Hyperhomocysteinemia -A Folate Trial for Possible Prevention of Cardiovascular Events Completed NCT00317005 Phase 4
18 Supplemented Very Low Protein Diet and the Progression of Chronic Kidney Disease Completed NCT02031224 Phase 4
19 Arterial pH and N-balances in APD Completed NCT00586131 Phase 4
20 Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission Completed NCT01018056 Phase 4
21 Memantine and Changes of Biological Markers and Brain PET Imaging in Alzheimer's Disease Completed NCT00800709 Phase 4
22 Efficacy of L-Ornithine L-Aspartate in Acute Hepatic Encephalopathy. Completed NCT01041755 Phase 4
23 Brain Muscle Axis During Treatment of Hepatic Encephalopathy With L-ornithine L-aspartate Completed NCT01847651 Phase 4
24 Effects of Topical Diclofenac on Tumor Metabolism Completed NCT01935531 Phase 4
25 To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs) Completed NCT01257737 Phase 4
26 Effect of Folic Acid Supplementation on Plasma Homocysteine Level in Obese Children Completed NCT01766310 Phase 4
27 Memantine (10mg BID) for the Frontal and Temporal Subtypes of Frontotemporal Dementia Completed NCT00545974 Phase 4
28 Lactulose, L-ornithine L-aspartate, or Rifaximin Versus Placebo for Preventing Hepatic Encephalopathy in Variceal Bleeding Completed NCT02158182 Phase 4
29 CARE Canadian ALS Riluzole Evaluation Completed NCT00542412 Phase 4
30 A 52 Week Open Label Trial of Memantine for Frontotemporal Lobar Degeneration Completed NCT00187525 Phase 4
31 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Completed NCT02458417 Phase 4
32 Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period Completed NCT01082328 Phase 4
33 The Neural Mechanisms of Anesthesia and Human Consciousness (Part 6) Completed NCT02624401 Phase 4
34 The Efficacy and Safety of Low Dose Combination of LTG and VPA Compared to CBZ Monotherapy Completed NCT00807989 Phase 4
35 Use of Cysteamine in the Treatment of Cystinosis Recruiting NCT00359684 Phase 4
36 The Effect of Omega-3 FA on Hypertriglyceridemia in Patients With T2DM(OCEAN) Recruiting NCT03120299 Phase 4
37 Evaluation of CYP450 Activities in Diabetic Patients vs. Non-diabetic Subjects Recruiting NCT02291666 Phase 4
38 Hyperventilation Combined With Etomidate or Ketamine Anesthesia in ECT Treatment of Major Depression Recruiting NCT02924090 Phase 4
39 Inhaled Nebulised S(+)-Ketamine for Postoperative Analgesia Recruiting NCT02397356 Phase 4
40 Perampanel in Seizure Patients With Primary Glial Brain Tumors Recruiting NCT02363933 Phase 4
41 A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle Disorders (UCDs) Active, not recruiting NCT02246218 Phase 4
42 Kuvan®'s Effect on the Cognition of Children With Phenylketonuria Active, not recruiting NCT01965912 Phase 4
43 Influence of OCT2 Inhibitor Cetirizine and Type 2 Diabetes on Gabapentin Kinetics Disposition in Patients With Neuropathic Pain Enrolling by invitation NCT03047278 Phase 4
44 Feasibility Study of the Intensive Systolic Blood Pressure Control Enrolling by invitation NCT02817503 Phase 4
45 The Effectiveness of Kuvan in Amish PKU Patients Not yet recruiting NCT02677870 Phase 4
46 CSPPT- Chronic Kidney Diseases Study Withdrawn NCT01871740 Phase 4
47 Effect of Sevelamer on P-cresol Levels in CKD Unknown status NCT02199444 Phase 3
48 L-citrulline Supplementation During Sepsis Unknown status NCT00628381 Phase 3
49 Efficacy of Amlodipine-folic Acid Tablets on Reduction of Blood Pressure and Plasma Homocysteine Unknown status NCT01848873 Phase 2, Phase 3
50 Olanzapine for the Treatment of Appetite Loss in Amyotrophic Lateral Sclerosis (ALS) Unknown status NCT00876772 Phase 2, Phase 3

Search NIH Clinical Center for Amino Acid Metabolic Disorder

Cochrane evidence based reviews: amino acid metabolism, inborn errors

Genetic Tests for Amino Acid Metabolic Disorder

Genetic tests related to Amino Acid Metabolic Disorder:

id Genetic test Affiliating Genes
1 Disorder of Amino Acid Metabolism 29

Anatomical Context for Amino Acid Metabolic Disorder

MalaCards organs/tissues related to Amino Acid Metabolic Disorder:

39
Testes

Publications for Amino Acid Metabolic Disorder

Articles related to Amino Acid Metabolic Disorder:

id Title Authors Year
1
[The dibasic amino acid metabolic disorders]. ( 1404883 )
1992

Variations for Amino Acid Metabolic Disorder

Expression for Amino Acid Metabolic Disorder

Search GEO for disease gene expression data for Amino Acid Metabolic Disorder.

Pathways for Amino Acid Metabolic Disorder

Pathways related to Amino Acid Metabolic Disorder according to GeneCards Suite gene sharing:

(show all 20)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 ALDH5A1 BCKDHB CBS FAH GAMT HGD
2
Show member pathways
12.52 MMAA MMACHC MTHFR MTR MUT PCCA
3
Show member pathways
12.17 CBS MTHFR MTR MUT
4
Show member pathways
11.91 CBS MTHFR MTR
5
Show member pathways
11.85 FAH HGD PAH
6
Show member pathways
11.85 BCKDHB MUT PCCA PCCB
7
Show member pathways
11.82 CBS MTHFR MTR MUT PAH PCCA
8 11.7 CBS FAH MUT
9
Show member pathways
11.6 FAH HGD PAH
10
Show member pathways
11.52 MMAA MUT PCCA PCCB
11
Show member pathways
11.19 SLC3A1 SLC7A7 SLC7A9
12 11.13 BCKDHB MUT PCCA PCCB
13 11.08 MUT PCCA PCCB
14
Show member pathways
11.08 MMAA MMACHC MTR MUT PCCA PCCB
15 11.02 SLC7A7 SLC7A9
16
Show member pathways
11.02 BCKDHB CBS PCCA
17 10.9 MMAA MMACHC MTR MUT
18
Show member pathways
10.64 PCCA PCCB
19
Show member pathways
10.48 CBS MTHFR
20
Show member pathways
10.11 MMAA MUT

GO Terms for Amino Acid Metabolic Disorder

Cellular components related to Amino Acid Metabolic Disorder according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.56 ALDH5A1 BCKDHB L2HGDH MMAA MMACHC MUT
2 mitochondrial matrix GO:0005759 9.1 ALDH5A1 BCKDHB MMAA MUT PCCA PCCB

Biological processes related to Amino Acid Metabolic Disorder according to GeneCards Suite gene sharing:

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.92 ALDH5A1 BCKDHB CBS HGD L2HGDH MMACHC
2 metabolic process GO:0008152 9.91 ALDH5A1 BCKDHB CBS FAH MTHFR MUT
3 amino acid transport GO:0006865 9.67 SLC3A1 SLC7A7 SLC7A9
4 cellular amino acid biosynthetic process GO:0008652 9.65 CBS MTR PAH
5 amino acid transmembrane transport GO:0003333 9.58 SLC7A7 SLC7A9
6 L-phenylalanine catabolic process GO:0006559 9.58 FAH HGD PAH
7 biotin metabolic process GO:0006768 9.57 PCCA PCCB
8 creatine metabolic process GO:0006600 9.56 GAMT SLC6A8
9 cellular amino acid metabolic process GO:0006520 9.56 HGD MTHFR SLC3A1 SLC7A7
10 aromatic amino acid family metabolic process GO:0009072 9.55 FAH PAH
11 S-adenosylmethionine metabolic process GO:0046500 9.54 GAMT MTHFR
12 basic amino acid transmembrane transport GO:1990822 9.52 SLC3A1 SLC7A7
13 tyrosine catabolic process GO:0006572 9.51 FAH HGD
14 L-cystine transport GO:0015811 9.46 SLC3A1 SLC7A9
15 cobalamin biosynthetic process GO:0009236 9.43 MMAA MMACHC
16 homocysteine metabolic process GO:0050667 9.33 CBS MTHFR MUT
17 cobalamin metabolic process GO:0009235 9.26 MMAA MMACHC MTR MUT
18 short-chain fatty acid catabolic process GO:0019626 8.92 MMAA MUT PCCA PCCB

Molecular functions related to Amino Acid Metabolic Disorder according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.7 ALDH5A1 BCKDHB HGD L2HGDH MMACHC MTHFR
2 amino acid transmembrane transporter activity GO:0015171 9.54 SLC3A1 SLC7A7 SLC7A9
3 basic amino acid transmembrane transporter activity GO:0015174 9.4 SLC3A1 SLC7A7
4 L-cystine transmembrane transporter activity GO:0015184 9.32 SLC3A1 SLC7A9
5 propionyl-CoA carboxylase activity GO:0004658 9.26 PCCA PCCB
6 cobalamin binding GO:0031419 9.13 MMACHC MTR MUT
7 modified amino acid binding GO:0072341 8.8 CBS MTHFR MUT

Sources for Amino Acid Metabolic Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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