MCID: AMN012
MIFTS: 15

Aminoacidopathies

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Aminoacidopathies

MalaCards integrated aliases for Aminoacidopathies:

Name: Aminoacidopathies 49
Amino Acid Metabolism, Inborn Errors 69
Amino Acid Disorders 49

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 Verapamil and Amlodipine have been mentioned in the context of this disorder. Affiliated tissues include testes.

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 mitochondrial encephalomyopathy 10.0
5 aging 9.9
6 organic acidemia 9.9

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 200)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verapamil Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 52-53-9 2520
2
Amlodipine Approved Phase 4,Phase 2,Phase 3 88150-42-9 2162
3
Dopamine Approved Phase 4,Phase 2 51-61-6, 62-31-7 681
4
Glycerol Approved, Investigational Phase 4,Phase 3,Phase 2 56-81-5 753
5
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
6
Enalapril Approved, Vet_approved Phase 4 75847-73-3 40466924 5362032
7
Enalaprilat Approved Phase 4 76420-72-9 6917719
8
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
9
leucovorin Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-05-9 143 6006
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 59-30-3 6037
11
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
12
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 5538
13 tannic acid Approved, Nutraceutical Phase 4
14 calcium channel blockers Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
15 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
16 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
17 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
18 Hematinics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
19 Vasodilator Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
20 Vitamin B Complex Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
21 Vitamins Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
22 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
23 Antihypertensive Agents Phase 4,Phase 2,Phase 3,Phase 1
24 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
25 Calcium, Dietary Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
26 4-phenylbutyric acid Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
27
Serotonin Phase 4 50-67-9 5202
28 Central Nervous System Depressants Phase 4
29 Serotonin Agents Phase 4
30 Dopamine Agents Phase 4,Phase 2
31 Pharmaceutical Solutions Phase 4,Phase 2,Phase 1,Not Applicable
32 Antioxidants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
33 diuretics Phase 4
34
protease inhibitors Phase 4
35 Adrenergic Agents Phase 4
36 Adrenergic Antagonists Phase 4
37 Sodium Chloride Symporter Inhibitors Phase 4
38 Adrenergic beta-Antagonists Phase 4
39 Natriuretic Agents Phase 4
40 HIV Protease Inhibitors Phase 4
41 Angiotensin-Converting Enzyme Inhibitors Phase 4
42 Folate Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
43 phenylalanine Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
44 Vitamin B9 Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
45
Hyaluronic acid Approved, Vet_approved Phase 3 9004-61-9 53477741 24759
46
Hydroxocobalamin Approved Phase 3,Phase 2,Not Applicable 13422-51-0 5460373 44475014 11953898
47
Hydroquinone Approved, Investigational Phase 3 123-31-9 785
48
Nitisinone Approved, Investigational Phase 3,Phase 2,Phase 1 104206-65-7 115355
49
Metronidazole Approved Phase 3 443-48-1 4173
50
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical Phase 3,Phase 2,Not Applicable 13422-55-4

Interventional clinical trials:

(show top 50) (show all 213)

# Name Status NCT ID Phase Drugs
1 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Unknown status NCT01640678 Phase 4
2 Punchgrafting Techniques for Vitiligo Unknown status NCT01377077 Phase 4
3 Effect of Folic Acid Supplementation on Plasma Homocysteine Level in Obese Children Completed NCT01766310 Phase 4 Folic Acid;placebo
4 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Completed NCT02458417 Phase 4
5 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
6 Effects of Kuvan on Melatonin Secretion Completed NCT01617070 Phase 4 Kuvan
7 Uremic Hyperhomocysteinemia -A Folate Trial for Possible Prevention of Cardiovascular Events Completed NCT00317005 Phase 4 folate treatment
8 Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period Completed NCT01082328 Phase 4 Kuvan®
9 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
10 Study of Glycerol Phenylbutyrate & Sodium Phenylbutyrate in Phenylbutyrate Naïve Patients With Urea Cycle Disorders Recruiting NCT03335488 Phase 4 RAVICTI;NaPBA
11 The Effectiveness of Kuvan in Amish PKU Patients Recruiting NCT02677870 Phase 4 saproterin dihydrochloride
12 Kuvan®'s Effect on the Cognition of Children With Phenylketonuria Active, not recruiting NCT01965912 Phase 4 Kuvan®
13 Feasibility Study of the Intensive Systolic Blood Pressure Control Enrolling by invitation NCT02817503 Phase 4 Standard BP control;Moderate BP control;Intensive BP control
14 CSPPT- Chronic Kidney Diseases Study Withdrawn NCT01871740 Phase 4 Enalapril maleate and folic acid tablets;Enalapril maleate
15 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
16 A Multicenter Trial of Non-cultured Epidermal Cellular Grafting Versus Hyaluronic Acid for Repigmenting Stable Leukoderma (Vitiligo and Piebaldism) Unknown status NCT02156427 Phase 3
17 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
18 Effects of Low-dose Complex B-vitamins on Homocysteine and Framingham Risk Score Among Chinese Elderly Completed NCT00755664 Phase 3
19 Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Nitisinone in HT-1 Completed NCT02323529 Phase 3 Nitisinone
20 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
21 Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria Completed NCT01732471 Phase 3 Kuvan®
22 Kuvan® in Phenylketonuria Patients Less Than 4 Years Old Completed NCT01376908 Phase 3 Kuvan®
23 Study of the Safety, Pharmacokinetics and Efficacy of HPN-100, in Pediatric Subjects With Urea Cycle Disorders (UCDs) Completed NCT01347073 Phase 3 HPN-100
24 Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients Completed NCT01114737 Phase 3 Sapropterin dihydrochloride;Placebo
25 Efficacy and Safety of HPN-100 for the Treatment of Adults With Urea Cycle Disorders Completed NCT00992459 Phase 3 HPN-100;Buphenyl (NaPBA)
26 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
27 Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006 Completed NCT00332189 Phase 3 sapropterin dihydrochloride
28 Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet Completed NCT00272792 Phase 3 Sapropterin Dihydrochloride;Placebo
29 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
30 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
31 Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia Active, not recruiting NCT02426775 Phase 3 Carglumic Acid
32 Suitability of Nitisinone in Alkaptonuria 2 Active, not recruiting NCT01916382 Phase 3 Nitisinone
33 Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria Active, not recruiting NCT01390077 Phase 2, Phase 3 Nitisinone
34 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
35 Phenylbutyrate Therapy for Maple Syrup Urine Disease Active, not recruiting NCT01529060 Phase 2, Phase 3 Phenylbutyrate;Placebo powder
36 Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKU Active, not recruiting NCT00838435 Phase 3 sapropterin dihydrochloride
37 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)
38 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
39 Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder Completed NCT00345605 Phase 2 Sodium Phenylbutyrate;Arginine
40 EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment Completed NCT01793090 Phase 2 Epi-743
41 Dose Response Study of Nitisinone in Alkaptonuria Completed NCT01828463 Phase 2 Nitisinone
42 Long-Term Study of Nitisinone to Treat Alkaptonuria Completed NCT00107783 Phase 2 Nitisinone (NTBC)
43 Study of ORL-1B in Patients With Biotinidase Deficiency Completed NCT03269045 Phase 1, Phase 2 ORL-1B
44 Nitisinone for Type 1B Oculocutaneous Albinism Completed NCT01838655 Phase 1, Phase 2 Nitisinone
45 Trial of L-DOPA as a Treatment to Improve Vision in Albinism Completed NCT01176435 Phase 2 Levodopa;Levodopa;Levodopa
46 Betaine METABOLISM OF PATIENTS With Homocystinuria Completed NCT02404337 Phase 2 Betaine
47 A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 Weeks Completed NCT01560286 Phase 2
48 Safety Study of HepaStem for the Treatment of Urea Cycle Disorders (UCD) and Crigler-Najjar Syndrome (CN) Completed NCT01765283 Phase 1, Phase 2
49 Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants Completed NCT01624311 Phase 2
50 Safety, Tolerability, and Efficacy Study of rAvPAL-PEG Administered Daily in Subjects With Phenylketonuria (PKU) Completed NCT01212744 Phase 2 rAvPAL-PEG

Search NIH Clinical Center for Aminoacidopathies

Genetic Tests for Aminoacidopathies

Anatomical Context for Aminoacidopathies

MalaCards organs/tissues related to Aminoacidopathies:

38
Testes

Publications for Aminoacidopathies

Articles related to Aminoacidopathies:

(show all 39)
# Title Authors Year
1
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options. ( 29094226 )
2017
2
Single amino acid supplementation in aminoacidopathies: a systematic review. ( 24422943 )
2014
3
Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: A twelve-year experience. ( 23994778 )
2013
4
Aminoacidopathies and organic acidurias in Tunisia: a retrospective survey over 23 years. ( 22481200 )
2012
5
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
6
HPLC method for amino acids profile in biological fluids and inborn metabolic disorders of aminoacidopathies. ( 23105346 )
2002
7
Gestational age-related reference values for amniotic fluid amino acids: a useful tool for prenatal diagnosis of aminoacidopathies. ( 8843471 )
1996
8
Aminoacidopathies among institutionalised mentally retarded in Kuwait. ( 1424246 )
1992
9
Mental retardation--a clinician's approach to the diagnosis of aminoacidopathies. ( 2699317 )
1989
10
An unusual aminoacidopathy associated with mitochondrial encephalomyopathy. ( 2501579 )
1989
11
Mitochondrial encephalomyopathy with associated aminoacidopathy in a male sibship. ( 2738799 )
1989
12
Aminoacidopathies: a review of 3 years experience of investigations in a Kuwait hospital. ( 3148069 )
1988
13
Ion-exchange chromatography and clinical criteria in the screening of the aminoacidopathies. ( 3180478 )
1988
14
Aminoacidopathies in Andhra Pradesh; report of a screening programme. ( 6820443 )
1982
15
Acute and long-term management of infants with aminoacidopathies and organic acidurias. ( 7163248 )
1982
16
Multiple neonatal screening for aminoacidopathies by ion exchange chromatography. ( 7134749 )
1982
17
Separation and identification of dansylated human serum and urinary amino acids by two-dimensional thin-layer chromatography. Application to aminoacidopathies. ( 7320177 )
1981
18
Urine screening for aminoacidopathies: is it beneficial? Results of a long-term follow-up of cases detected bny screening one millon babies. ( 7411317 )
1980
19
Screening for metabolic disorders in children--aminoacidopathies. ( 892892 )
1977
20
Megavitamin responsive aminoacidopathies. ( 958746 )
1976
21
Improved high-resolution high-voltage paper electrophoresis system for use in screening for aminoacidopathies. ( 162 )
1975
22
Letter: Aminoacidopathies in Guam. ( 4132347 )
1974
23
Diagnosis and mangement of inherited aminoacidopathies in the newborn and the unborn. ( 4609645 )
1974
24
On the screening, diagnosis and investigation of hereditary aminoacidopathies. ( 4583335 )
1973
25
Newer trends in the genetic and biochemical studies in the etiopathogenesis of aminoacidopathies. ( 4784816 )
1973
26
The use of animal models for the study of aminoacidopathies. ( 4197619 )
1972
27
Pediatric clinical aspects of aminoacidopathies. ( 4663915 )
1972
28
Ocular manifestations in aminoacidopathies. ( 4560371 )
1972
29
The aminoacidopathies. ( 4197614 )
1972
30
Ocular manifestations in aminoacidopathies. ( 4541412 )
1972
31
Aminoacidopathies in mental retardation. ( 4663889 )
1972
32
Early detection of phenylketonuria and other aminoacidopathies in a large city using plasma chromatography. ( 5129211 )
1971
33
Rapid screening methods for the detection of inherited and acquired aminoacidopathies. ( 4109903 )
1971
34
Simple biochemical methods for the study of lipidoses and aminoacidopathies. ( 5525772 )
1970
35
Inherited aminoacidopathies demonstrating vitamin dependency. ( 4894567 )
1969
36
Screening for aminoacidopathies with prepared cellulose layers on aluminium foil. ( 5809518 )
1969
37
Phenylketonuria. Screening tests for aminoacidopathies in newborn infants. ( 5215610 )
1965
38
A Commentary on Multiple Screening for Aminoacidopathies in the Newborn Infant. ( 20328261 )
1965
39
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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