BIOPKU :: International Database of Patients and Mutations causing BH4-responsive HPA/PKU

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PNDDB - Pediatric Neurotransmitter Diseases

Primary Disorders

Tyrosine hydroxylase (TH)

Tryptophan hydroxylase (TPH)

Aromatic amino acid hydroxylase (AADC)

Dopamine ß-hydroxylase (DBH)

Dopamine transporter (DAT)

Vesiculat monoamine transporter 3 (VMAT2)

Succinic Semialdehyde Dehydrogenase (SSADH)

Glycine cleavage system (GCS)

Secondary disorders with hyperphenylalaninemia

GTP cyclohydrolase I [autosomal recessive] (arGTPCH) deficiency

6-Pyruvoly-tetrahydropterin synthase (PTPS) deficiency

Dihydropteridine reductase (DHPR) deficiency

Without Hyperphenylalaninemia

GTP cyclohydrolase I [autosomal dominat] (adGTPCH) deficiency

Sepiapterin reductase (SR) deficiency

Others

Pyridoxamine-5'-phosphate oxidase (PNPO) deficiency

Antiquitin (ALDH7A1) deficiency

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