Amino acid metabolism disease
MONDO:0037871A disease that has its basis in the disruption of cellular amino acid metabolic process.
Also known as: amino acid disorder, amino acid metabolism disorder, amino acidopathy, cellular amino acid metabolic process disease, disorder of amino acid metabolism, disorder of cellular amino acid metabolic process
160 clinical trials for this condition and its sub-types, 2 tagged with Amino acid metabolism disease itself.
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Sub-types of Amino acid metabolism disease
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Inborn disorder of amino acid metabolism 6 trials · 159 incl. sub-types
33 sub-types
- Inborn disorder of phenylalanine and tyrosine metabolism 0 trials · 65 incl. sub-types Sub-types →
- Urea cycle disorder 14 trials · 30 incl. sub-types Sub-types →
- Inborn organic aciduria 5 trials · 29 incl. sub-types Sub-types →
- Inborn disorder of amino acid transport 1 trial · 16 incl. sub-types Sub-types →
- Homocystinuria 7 trials · 11 incl. sub-types Sub-types →
- Hyperphenylalaninemia due to tetrahydrobiopterin deficiency 6 trials · 7 incl. sub-types Sub-types →
- Adenine phosphoribosyltransferase deficiency 6 trials
- Albinism 6 trials Sub-types →
- Cerebral creatine deficiency syndrome 0 trials · 6 incl. sub-types Sub-types →
- Inborn disorder of branched-chain amino acid metabolism 0 trials · 4 incl. sub-types Sub-types →
- Inborn disorder of ornithine metabolism 0 trials · 4 incl. sub-types Sub-types →
- Adenylosuccinate lyase deficiency 2 trials
- Gamma-amino butyric acid metabolism disorder 0 trials · 1 incl. sub-types Sub-types →
- Inborn serine deficiency 0 trials · 1 incl. sub-types Sub-types →
- Systemic primary carnitine deficiency disease 1 trial
- 2-methylacetoacetyl CoA thiolase deficiency 0 trials
- Brunner syndrome 0 trials
- Aminoacylase 1 deficiency 0 trials
- Arakawa syndrome 2 0 trials
- Cystathioninuria 0 trials
- Disorder of methionine catabolism 0 trials Sub-types →
- Glycine encephalopathy 0 trials Sub-types →
- Hyperglycinemia, transient neonatal 0 trials
- Hyperlysinemia 0 trials Sub-types →
- Hyperphenylalaninemia due to DNAJC12 deficiency 0 trials
- Inborn disorder of glutamate/glutamine and aspartate/asparagine metabolism 0 trials
- Inborn disorder of glycine and serine metabolism 0 trials
- Inborn disorder of histidine metabolism 0 trials Sub-types →
- Inborn disorder of ornithine, proline and hydroxyproline metabolism 0 trials
- Inborn disorder of proline metabolism 0 trials Sub-types →
- Inborn disorder of the metabolism of sulfur-containing amino acids and hydrogen sulfide 0 trials
- Inborn disorder of tryptophan metabolism 0 trials Sub-types →
- Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia 0 trials
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Creatine biosynthetic process disease 0 trials · 1 incl. sub-types
2 sub-types
- AGAT deficiency 1 trial
- Guanidinoacetate methyltransferase deficiency 1 trial
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Glycine metabolism disease 0 trials
1 sub-type
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Valine metabolism disease 0 trials
2 sub-types
- 3-hydroxyisobutyric aciduria 0 trials
- 3-hydroxyisobutyryl-CoA hydrolase deficiency 0 trials
Most studied deeper sub-types
Phenylketonuria
(57)
Ornithine carbamoyltransferase deficiency
(16)
Arginase deficiency
(8)
Propionic acidemia
(8)
Cystinuria
(7)
Methylmalonic acidemia
(7)
Creatine transporter deficiency
(6)
Tyrosinemia
(6)
Barth syndrome
(5)
Argininosuccinic aciduria
(4)
Carbamoyl phosphate synthetase I deficiency disease
(4)
Citrullinemia type I
(4)
Classic homocystinuria
(4)
Classic phenylketonuria
(4)
Glutaryl-CoA dehydrogenase deficiency
(4)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
(4)
Ornithine aminotransferase deficiency
(4)
Biotinidase deficiency
(3)
Citrin deficiency
(3)
Developmental and epileptic encephalopathy, 13
(3)