Familial hypertryptophanemia

MONDO:0010907

Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.

Also known as: hypertryptophanemia, familial hypertryptophanemia, HYPTRP, hypertryptophanemia, familial

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↑ Inborn disorder of tryptophan metabolism (0)

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