MCID: AMN012
MIFTS: 24

Aminoacidopathies

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Aminoacidopathies

MalaCards integrated aliases for Aminoacidopathies:

Name: Aminoacidopathies 53
Amino Acid Metabolism, Inborn Errors 73
Amino Acid Disorders 53

Classifications:



Summaries for Aminoacidopathies

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

Related Diseases for Aminoacidopathies

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

# Related Disease Score Top Affiliating Genes
1 encephalomyopathy 11.8
2 mitochondrial dna depletion syndrome 5 10.9
3 phenylketonuria 10.0
4 organic acidemia 10.0
5 mitochondrial encephalomyopathy 10.0
6 aging 9.9
7 homocystinuria 9.6

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 top 50) (show all 212)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amlodipine Approved Phase 4,Phase 2,Phase 3 88150-42-9 2162
2
Verapamil Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 52-53-9 2520
3
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
4
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
5
Glycerol Approved, Investigational Phase 4,Phase 3,Phase 2 56-81-5 753
6
Dopamine Approved Phase 4,Phase 2 51-61-6, 62-31-7 681
7
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
8
Enalaprilat Approved Phase 4 76420-72-9 6917719
9
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
10
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
11
leucovorin Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-05-9 143 6006
12
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 59-30-3 6037
13
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
14
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 5538 444795
15 tannic acid Approved, Nutraceutical Phase 4
16
Tenofovir Phase 4 147127-20-6 464205
17 calcium channel blockers Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
18
protease inhibitors Phase 4
19 Raltegravir Potassium Phase 4
20 Reverse Transcriptase Inhibitors Phase 4
21 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
22 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
23 Hematinics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
24 HIV Integrase Inhibitors Phase 4
25 Cytochrome P-450 CYP3A Inhibitors Phase 4
26 HIV Protease Inhibitors Phase 4
27 Cytochrome P-450 Enzyme Inhibitors Phase 4
28 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
29 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 2,Phase 1
30 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
31 Vasodilator Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
32 Vitamin B Complex Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
33 Vitamins Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
34 Antihypertensive Agents Phase 4,Phase 2,Phase 3,Phase 1
35 Anti-Infective Agents Phase 4,Phase 2,Phase 1,Not Applicable
36 Integrase Inhibitors Phase 4
37 Anti-HIV Agents Phase 4
38 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
39 Anti-Retroviral Agents Phase 4
40 Atazanavir Sulfate Phase 4
41 Antiviral Agents Phase 4,Phase 2,Phase 1,Not Applicable
42 Calcium, Dietary Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
43 4-phenylbutyric acid Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
44 Central Nervous System Depressants Phase 4
45 Serotonin Agents Phase 4
46 Dopamine Agents Phase 4,Phase 2
47 Pharmaceutical Solutions Phase 4,Phase 2,Phase 1,Not Applicable
48 Antioxidants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
49 diuretics Phase 4
50 Adrenergic Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 218)
# Name Status NCT ID Phase Drugs
1 Bone Mineral Density Changes in HIV-positive Females With Osteopenia Switching to Raltegravir Unknown status NCT01902186 Phase 4 raltegravir and atazanavir and ritonavir;tenofovir/emtricitabine and atazanavir and ritonavir
2 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Unknown status NCT01640678 Phase 4
3 Punchgrafting Techniques for Vitiligo Unknown status NCT01377077 Phase 4
4 Effect of Folic Acid Supplementation on Plasma Homocysteine Level in Obese Children Completed NCT01766310 Phase 4 Folic Acid;placebo
5 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Completed NCT02458417 Phase 4
6 A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle Disorders Completed NCT02246218 Phase 4 RAVICTI
7 Effects of Kuvan on Melatonin Secretion Completed NCT01617070 Phase 4 Kuvan
8 Uremic Hyperhomocysteinemia -A Folate Trial for Possible Prevention of Cardiovascular Events Completed NCT00317005 Phase 4 folate treatment
9 Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period Completed NCT01082328 Phase 4 Kuvan®
10 To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs) Completed NCT01257737 Phase 4 HPN-100
11 Study of Glycerol Phenylbutyrate & Sodium Phenylbutyrate in Phenylbutyrate Naïve Patients With Urea Cycle Disorders Recruiting NCT03335488 Phase 4 RAVICTI;NaPBA
12 The Effectiveness of Kuvan in Amish PKU Patients Recruiting NCT02677870 Phase 4 saproterin dihydrochloride
13 Kuvan®'s Effect on the Cognition of Children With Phenylketonuria Active, not recruiting NCT01965912 Phase 4 Kuvan®
14 Feasibility Study of the Intensive Systolic Blood Pressure Control Enrolling by invitation NCT02817503 Phase 4 Standard BP control;Moderate BP control;Intensive BP control
15 CSPPT- Chronic Kidney Diseases Study Withdrawn NCT01871740 Phase 4 Enalapril maleate and folic acid tablets;Enalapril maleate
16 Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria Unknown status NCT01390077 Phase 2, Phase 3 Nitisinone
17 Efficacy of Amlodipine-folic Acid Tablets on Reduction of Blood Pressure and Plasma Homocysteine Unknown status NCT01848873 Phase 2, Phase 3 Amlodipine;amlodipine-FA tablet, low dose group;amlodipine-FA tablet ,high dose group
18 A Multicenter Trial of Non-cultured Epidermal Cellular Grafting Versus Hyaluronic Acid for Repigmenting Stable Leukoderma (Vitiligo and Piebaldism) Unknown status NCT02156427 Phase 3
19 The Effects of 8-week Choline, Betaine, and Folic Acid Supplementation on Plasma Homocysteine Concentration During Guanidinoacetic Acid Loading in Young Healthy Volunteers Completed NCT01371357 Phase 3 TEST 1;TEST 2;TEST 3;TEST 4
20 Effects of Low-dose Complex B-vitamins on Homocysteine and Framingham Risk Score Among Chinese Elderly Completed NCT00755664 Phase 3
21 Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Nitisinone in HT-1 Completed NCT02323529 Phase 3 Nitisinone
22 An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165 Completed NCT01819727 Phase 3 BMN 165
23 Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria Completed NCT01732471 Phase 3 Kuvan®
24 Kuvan® in Phenylketonuria Patients Less Than 4 Years Old Completed NCT01376908 Phase 3 Kuvan®
25 Study of the Safety, Pharmacokinetics and Efficacy of HPN-100, in Pediatric Subjects With Urea Cycle Disorders (UCDs) Completed NCT01347073 Phase 3 HPN-100
26 Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients Completed NCT01114737 Phase 3 Sapropterin dihydrochloride;Placebo
27 Efficacy and Safety of HPN-100 for the Treatment of Adults With Urea Cycle Disorders Completed NCT00992459 Phase 3 HPN-100;Buphenyl (NaPBA)
28 Study of the Safety of HPN (Hyperion)-100 for the Long-Term Treatment of Urea Cycle Disorders (Treat UCD) Completed NCT00947297 Phase 3 HPN-100
29 Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006 Completed NCT00332189 Phase 3 sapropterin dihydrochloride
30 Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet Completed NCT00272792 Phase 3 Sapropterin Dihydrochloride;Placebo
31 A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With PKU Who Have Elevated Phenylalanine Levels Completed NCT00225615 Phase 3 sapropterin dihydrochloride
32 Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels Completed NCT00104247 Phase 3 sapropterin dihydrochloride, 6R-BH4, tetrahydrobiopterin
33 Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia Active, not recruiting NCT02426775 Phase 3 Carglumic Acid
34 Suitability of Nitisinone in Alkaptonuria 2 Active, not recruiting NCT01916382 Phase 3 Nitisinone
35 Phase 3 Study to Evaluate the Efficacy & Safety of Self-Administered Injections of BMN165 by Adults With PKU Active, not recruiting NCT01889862 Phase 3 BMN165 20mg/day;BMN165 40mg/day;Placebo
36 Phenylbutyrate Therapy for Maple Syrup Urine Disease Active, not recruiting NCT01529060 Phase 2, Phase 3 Phenylbutyrate;Placebo powder
37 Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKU Active, not recruiting NCT00838435 Phase 3 sapropterin dihydrochloride
38 Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and Safety Terminated NCT00432822 Phase 2, Phase 3 tetrahydrobiopterin (BH4)
39 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
40 Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder Completed NCT00345605 Phase 2 Sodium Phenylbutyrate;Arginine
41 EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment Completed NCT01793090 Phase 2 Epi-743
42 Dose Response Study of Nitisinone in Alkaptonuria Completed NCT01828463 Phase 2 Nitisinone
43 Long-Term Study of Nitisinone to Treat Alkaptonuria Completed NCT00107783 Phase 2 Nitisinone (NTBC)
44 Study of ORL-1B in Patients With Biotinidase Deficiency Completed NCT03269045 Phase 1, Phase 2 ORL-1B
45 Nitisinone for Type 1B Oculocutaneous Albinism Completed NCT01838655 Phase 1, Phase 2 Nitisinone
46 Trial of L-DOPA as a Treatment to Improve Vision in Albinism Completed NCT01176435 Phase 2 Levodopa;Levodopa;Placebo
47 Betaine METABOLISM OF PATIENTS With Homocystinuria Completed NCT02404337 Phase 2 Betaine
48 A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 Weeks Completed NCT01560286 Phase 2
49 Safety Study of HepaStem for the Treatment of Urea Cycle Disorders (UCD) and Crigler-Najjar Syndrome (CN) Completed NCT01765283 Phase 1, Phase 2
50 Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants Completed NCT01624311 Phase 2

Search NIH Clinical Center for Aminoacidopathies

Genetic Tests for Aminoacidopathies

Anatomical Context for Aminoacidopathies

MalaCards organs/tissues related to Aminoacidopathies:

41
Testes, Liver, Brain, Bone, Endothelial, Kidney, Bone Marrow

Publications for Aminoacidopathies

Articles related to Aminoacidopathies:

(show all 43)
# Title Authors Year
1
Neuroimaging Findings of Organic Acidemias and Aminoacidopathies. ( 29757724 )
2018
2
Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria. ( 29743968 )
2018
3
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options. ( 29094226 )
2017
4
Single amino acid supplementation in aminoacidopathies: a systematic review. ( 24422943 )
2014
5
Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: A twelve-year experience. ( 23994778 )
2013
6
Aminoacidopathies and organic acidurias in Tunisia: a retrospective survey over 23 years. ( 22481200 )
2012
7
On-capillary derivatization and analysis of amino acids in human plasma by capillary electrophoresis with laser-induced fluorescence detection: application to diagnosis of aminoacidopathies. ( 16800027 )
2006
8
HPLC method for amino acids profile in biological fluids and inborn metabolic disorders of aminoacidopathies. ( 23105346 )
2002
9
Gestational age-related reference values for amniotic fluid amino acids: a useful tool for prenatal diagnosis of aminoacidopathies. ( 8843471 )
1996
10
Selective screening for amino acid disorders. ( 7957384 )
1994
11
Aminoacidopathies among institutionalised mentally retarded in Kuwait. ( 1424246 )
1992
12
Mitochondrial encephalomyopathy with associated aminoacidopathy in a male sibship. ( 2738799 )
1989
13
An unusual aminoacidopathy associated with mitochondrial encephalomyopathy. ( 2501579 )
1989
14
Mental retardation--a clinician's approach to the diagnosis of aminoacidopathies. ( 2699317 )
1989
15
Ion-exchange chromatography and clinical criteria in the screening of the aminoacidopathies. ( 3180478 )
1988
16
Aminoacidopathies: a review of 3 years experience of investigations in a Kuwait hospital. ( 3148069 )
1988
17
Aminoacidopathies in Andhra Pradesh; report of a screening programme. ( 6820443 )
1982
18
Acute and long-term management of infants with aminoacidopathies and organic acidurias. ( 7163248 )
1982
19
Multiple neonatal screening for aminoacidopathies by ion exchange chromatography. ( 7134749 )
1982
20
Separation and identification of dansylated human serum and urinary amino acids by two-dimensional thin-layer chromatography. Application to aminoacidopathies. ( 7320177 )
1981
21
[Phaenotypic aspects of hereditary aminoacidopathies (author's transl)]. ( 6801479 )
1981
22
Urine screening for aminoacidopathies: is it beneficial? Results of a long-term follow-up of cases detected bny screening one millon babies. ( 7411317 )
1980
23
Screening for metabolic disorders in children--aminoacidopathies. ( 892892 )
1977
24
Megavitamin responsive aminoacidopathies. ( 958746 )
1976
25
Improved high-resolution high-voltage paper electrophoresis system for use in screening for aminoacidopathies. ( 162 )
1975
26
Letter: Aminoacidopathies in Guam. ( 4132347 )
1974
27
Diagnosis and mangement of inherited aminoacidopathies in the newborn and the unborn. ( 4609645 )
1974
28
On the screening, diagnosis and investigation of hereditary aminoacidopathies. ( 4583335 )
1973
29
Newer trends in the genetic and biochemical studies in the etiopathogenesis of aminoacidopathies. ( 4784816 )
1973
30
Pediatric clinical aspects of aminoacidopathies. ( 4663915 )
1972
31
The use of animal models for the study of aminoacidopathies. ( 4197619 )
1972
32
Ocular manifestations in aminoacidopathies. ( 4560371 )
1972
33
Aminoacidopathies in mental retardation. ( 4663889 )
1972
34
The aminoacidopathies. ( 4197614 )
1972
35
Ocular manifestations in aminoacidopathies. ( 4541412 )
1972
36
Rapid screening methods for the detection of inherited and acquired aminoacidopathies. ( 4109903 )
1971
37
Early detection of phenylketonuria and other aminoacidopathies in a large city using plasma chromatography. ( 5129211 )
1971
38
Simple biochemical methods for the study of lipidoses and aminoacidopathies. ( 5525772 )
1970
39
Inherited aminoacidopathies demonstrating vitamin dependency. ( 4894567 )
1969
40
Screening for aminoacidopathies with prepared cellulose layers on aluminium foil. ( 5809518 )
1969
41
A Commentary on Multiple Screening for Aminoacidopathies in the Newborn Infant. ( 20328261 )
1965
42
Phenylketonuria. Screening tests for aminoacidopathies in newborn infants. ( 5215610 )
1965
43
APPLICATION OF A SIMPLE MICROMETHOD TO THE SCREENING OF PLASMA FOR A VARIETY OF AMINOACIDOPATHIES. ( 14163150 )
1964

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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