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Inborn disorder of amino acid metabolism

rare

An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.

Identifiers
MONDO:0004736
Part of
Amino acid metabolism diseaseInborn disorder of amino acid and other organic acid metabolism
Also known as
amino acid metabolism, inborn errors · inborn amino acid metabolism disorder · inborn cellular amino acid metabolic process disorder · inborn error of amino acid metabolism · inborn error of cellular amino acid metabolic process

Subtypes

All diseases Rare only
Disease Subtypes
Inborn organic aciduria 61
Inborn disorder of amino acid transport 40
Inborn disorder of phenylalanine and tyrosine metabolism 29
Urea cycle disorder 18
Inborn disorder of proline metabolism 16
Homocystinuria 15
Inborn disorder of branched-chain amino acid metabolism 14
Inborn serine deficiency 11
Inborn disorder of ornithine metabolism 8
Glycine encephalopathy 6
Gamma-amino butyric acid metabolism disorder 4
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency 4
Cerebral creatine deficiency syndrome 3
Disorder of methionine catabolism 3
Inborn disorder of histidine metabolism 3
Inborn disorder of tryptophan metabolism 3
Albinism 2
Hyperlysinemia 1
2-methylacetoacetyl CoA thiolase deficiency
Brunner syndrome
Adenine phosphoribosyltransferase deficiency
Adenylosuccinate lyase deficiency
Aminoacylase 1 deficiency
Arakawa syndrome 2
Cystathioninuria
Hyperglycinemia, transient neonatal
Hyperphenylalaninemia due to DNAJC12 deficiency
Inborn disorder of glutamate/glutamine and aspartate/asparagine metabolism
Inborn disorder of glycine and serine metabolism
Inborn disorder of ornithine, proline and hydroxyproline metabolism
Inborn disorder of the metabolism of sulfur-containing amino acids and hydrogen sulfide
Systemic primary carnitine deficiency disease
Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia

Rare disease

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