6-pyruvoyltetrahydropterin synthase


Also found in: Acronyms.

6-py·ru·vo·yl·tet·ra·hy·drop·ter·in syn·thase (6-PTS),

(pī-rū'vō-il-tet'tră-hī-drop'tĕr-in sin'thās),
An enzyme that catalyzes a step in the synthesis of tetrahydrobiopterin; a deficiency of this enzyme will result in one form of hyperphenylalaninemia.
Farlex Partner Medical Dictionary © Farlex 2012
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Confusing CSF neurochemical picture suggesting 6-pyruvoyltetrahydropterin synthase deficiency in neonates with probable hypoxic-ischemic encephalopathy.
Clinical utility of monoamine neurotransmitter metabolite analysis in cerebrospinal fluid
Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninaemia in humans.
Identification of mutations causing 6-pyruvoyltetrahydropterin synthase deficiency in four Italian families.
Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia

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