Catalog

Malignant hyperphenylalaninaemia due to tetrahydrobiopterin deficiency

No MMS code

Link to WHO Definition

Malignant hyperphenylalaninaemia due to tetrahydrobiopterin deficiency – http://id.who.int/icd/entity/1659163210

This condition is characterised by mildly or strongly elevated levels of the amino acid phenylalanine in the blood. This diagnosis is due to a rare metabolic disorder that increases the blood levels of phenylalanine.