1.2

Disorders of peptide and amine metabolism

This small group of disorders comprises deficiencies of enzymes which are involved in the biosynthesis and regeneration of glutathione, a critical molecule in protecting cells from oxidative stress. In addition, this group also includes disorders linked to dipeptidase deficiencies and issues in the metabolism of methylamine and polyamine metabolism.

1.2.a

Disorders of glutathione metabolism

Gamma-glutamylcysteine synthetase deficiency (Glutamate-cysteine ligase deficiency) Glutathione synthetase deficiency Gamma-glutamyl…
1.2.b

Other disorders of peptide metabolism

Prolidase deficiency X-prolyl aminopeptidase 3 deficiency (Nephronophthisis-like nephropathy type 1)…
1.2.c

Disorders of methylamine metabolism

Dimethylglycine dehydrogenase deficiency (Dimethylglycinuria) Sarcosine dehydrogenase deficiency (Sarcosinemia) Flavin monooxygenase…
1.2.d

Disorders of polyamine metabolism

Ornithine decarboxylase superactivity (Bachmann-Bupp syndrome) Spermine synthase deficiency (Snyder-Robinson syndrome)…

Subnetworks

AOA 1

AOA

Aminoacid and organic acids related disorders

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