BH4 Databases


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PNDDB - Pediatric Neurotransmitter Diseases

Primary Disorders

Tyrosine hydroxylase (TH) deficiency

Tryptophan hydroxylase (TPH) deficiency

Aromatic amino acid hydroxylase (AADC) deficiency

Dopamine ß-hydroxylase (DBH) deficiency

MAO-A deficiency

Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

Glycine cleavage system (GCS) deficiency

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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