Hypertryptophanemia

Definition

A rare inborn error of metabolism characterized by congenital hypertryptophanemia and hyperserotonemia. Patients are typically asymptomatic, although developmental delay, intellectual disability, and behavioral abnormalities, among others, have been reported in association.

Disease data

Classification

Disease

ORPHA code

2224

OMIM code

600627

ICD10 code

E70.8

ICD11 code

5C50.3

*Soruce