Catalog

Dihydropteridine reductase deficiency

No MMS code

Link to WHO Definition

Dihydropteridine reductase deficiency – http://id.who.int/icd/entity/1931239861

Dihydropteridine reductase (DHPR) deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterine deficiency, and is also responsible for defective neurotransmission of monoamines. When left untreated, DHPR deficiency leads to neurological signs that include: psychomotor retardation, tonicity disorders, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficult swallowing.