1.01

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.

1.01.a

Urea cycle disorders and inherited hyper ammonemias

This section covers rare inherited urea cycle disorders and hyperammonemias,…
1.01.b

Organic acidurias

This section covers rare inherited organic acidurias, including propionic acidemia,…
1.01.c

Disorders of branched-chain amino acid metabolism

This section covers rare inherited disorders of branched-chain amino acid…
1.01.d

Disorders of phenylalanine and tyrosine metabolism

This section covers rare inherited disorders of phenylalanine and tyrosine…
1.01.e

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

This section covers rare inherited disorders of sulfur-containing amino acids…
1.01.f

Disorders of glycine and serine metabolism

This section covers rare inherited disorders of glycine and serine…
1.01.g

Disorders of ornithine, proline and hydroxyproline metabolism

This section covers rare inherited disorders of ornithine, proline and…
1.01.h

Disorders of lysine, hydroxylysine, and tryptophan metabolism

This section covers rare inherited disorders of lysine, hydroxylysine and…
1.01.i

Disorders of glutamate/glutamine and aspartate/asparagine metabolism

This section covers rare inherited disorders of glutamate, glutamine and…
1.01.j

Disorders of histidine metabolism

This section covers rare inherited disorders of histidine metabolism within…
1.01.k

Disorders of amino acid transport

This section covers rare inherited disorders of amino acid transport,…
1.01.l

Other disorders of amino acid metabolism

This section covers other rare inherited disorders of amino acid…

Subnetworks

AOA 1

AOA

Aminoacid and organic acids related disorders

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