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GENATLAS PHENOTYPE

last update : 5/09/2006

Symbol	PTSD
Location	11q23.1
Name	6-pyruvoyltetrahydropterin synthase deficiency
Other name(s)	PTPS deficiency hyperphenylalaninemia with PTS deficiency
Corresponding gene	PTS
Other symbol(s)	PTS
Main clinical features	most common cause of hyperphenylalaninemia due to tetrahydrobiopterin deficiency mental retardation, convulsions, disturbance of tone and posture, drowsiness, irritability, abnormal movements, hypersalivation, and swallowing difficulties
Genetic determination	autosomal recessive
Function/system disorder	metabolism/aminoacids
	metabolism/vitamin
Type	disease

Gene product

Name	6-pyruvoyl-tetrahydrobiopterin synthase (PTS)

Remark(s)