Familial hypertryptophanemia
Familial hypertryptophanemia
Definition
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 familial hypertryptophanemia — per MONDO