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BH4-deficient hyperphenylalaninemia A

rare

An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits.

Identifiers
MONDO:0009863 OMIM:261640Orphanet:13
Causal genes
PTS
Part of
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Also known as
6-pyruvoyl tetrahydropterin synthase deficiency · 6-pyruvoyl-tetrahydropterin synthase deficiency · Bh4-deficient hyperphenylalaninemia type A · HPABH4A · hyperphenylalanemia, BH4-deficient, A

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