Catalog

Hypertryptophanaemia

No MMS code

Link to WHO Definition

Hypertryptophanaemia – http://id.who.int/icd/entity/1215141359

Familial hypertryptophanaemia is characterised by intellectual deficit associated with behavioural problems: periodic mood swings, exaggerated affective responses and abnormal sexual behaviour. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanaemia and tryptophanuria.