Table 1 Classification of inherited disorders of biogenic amines.
From: Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Inherited disorders of biogenic amines | |||||
|---|---|---|---|---|---|
Primary disorders of biogenic amine metabolism | Disorders of tetrahydrobiopterin metabolism | Co-chaperone associated disorders | |||
Biosynthesis | Catabolism | Transport | Biosynthesis | Recycling | |
Aromatic l-amino acid decarboxylase deficiency (AADCD) | Monoamine oxidase A deficiency (MAOAD) | Vesicular monoamine transporter 2 deficiency (VMAT2D) | Autosomal dominant and recessive GTP-cyclohydrolase deficiency (ad/arGTPCHD) | Dihydropteridine reductase deficiency (DHPRD) | DNAJC12 deficiency (DNAJC12D) |
Tyrosine hydroxylase deficiency (THD) | Dopamine β-hydroxylase deficiency (DßHD) | Dopamine transporter deficiency (DATD) | 6-pyruvoyl-tetrahydropterin synthase deficiency (PTPSD) | Pterin-4a-carbinolamine dehydratase deficiency (PCDD) | |
Sepiapterin reductase deficiency (SRD) | |||||
