Hypertryptophanemia

Orpha code: 2224OMIM code: 600627

Definicja

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
Klasyfikacja

Disease

Kod ORPHA
2224
Kod OMIM
600627
Kod ICD10
E70.8
Kod ICD11
5C50.3

No additional description.

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