1.1

Disorders of amino acid metabolism

This group encompasses many metabolic disorders which are identifiable through standard metabolic assessments, such as amino acids and organic acids analysis, and are often responsive to dietary interventions. Disorders of amino acid metabolism include, between others, homocystinuria, Hartnup disease, phenylketonuria and tyrosinemia.

1.1.a

Urea cycle disorders and inherited hyper ammonemias

N-acetylglutamate synthase deficiency Carbamoyl phosphate synthetase 1 deficiency Ornithine transcarbamylase…
1.1.b

Organic acidurias

Isobutyryl-CoA dehydrogenase deficiency 2-Methylbutyryl-CoA dehydrogenase deficiency (Short/branched-chain acyl-CoA dehydrogenase deficiency; 2-methylbutyrylglycinuria) 3-Methylcrotonyl-CoA carboxylase 1…
1.1.c

Disorders of branched-chain amino acid metabolism

Branched-chain aminotransferase 2 deficiency (Hypervalinemia and hyperleucine- isoleucinemia) Branched-chain ketoacid…
1.1.d

Disorders of phenylalanine and tyrosine metabolism

Phenylalanine hydroxylase deficiency (Phenylketonuria) Tyrosinase deficiency (Oculocutaneous albinism type 1)…
1.1.e

Disorders of the metabolism of sulfur-containing amino acids and hydrogen sulfide

Methionine adenosyltransferase I/III deficiency (Mudd’s disease) Methionine adenosyltransferase II deficiency…
1.1.f

Disorders of glycine and serine metabolism

Nonketotic hyperglycinemia due to glycine decarboxylase deficiency (Glycine encephalopathy) Nonketotic…
1.1.g

Disorders of ornithine, proline and hydroxyproline metabolism

Ornithine aminotransferase deficiency (Gyrate atrophy of choroid and retin) Delta-1-pyrroline-5-carboxylate…
1.1.h

Disorders of lysine, hydroxylysine, and tryptophan metabolism

Alpha-aminoadipic semialdehyde synthase deficiency (Familial hyperlysinemia; saccharopinuria) DHTKD1 deficiency (2-aminoadipic…
1.1.i

Disorders of glutamate/glutamine and aspartate/asparagine metabolism

Glutamate pyruvate transaminase 2 deficiency Glutamate decarboxylase 1 deficiency (Spastic…
1.1.j

Disorders of histidine metabolism

Histidine ammonia-lyase deficiency (Histidase deficiency; histidinemia) Urocanase deficiency (Urocanic aciduria)
1.1.k

Disorders of amino acid transport

Hartnup disorder Iminoglycinuria Hyperglycinuria Cystinuria type A Cystinuria type B…
1.1.l

Other disorders of amino acid metabolism

Aminoacylase 1 deficiency

Subnetworks

AOA 1

AOA

Aminoacid and organic acids related disorders

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