" /> Dihydropteridine reductase deficiency - CISMeF





Preferred Label : Dihydropteridine reductase deficiency;

ICD-11 definition : Dihydropteridine reductase (DHPR) deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterine deficiency, andis 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.;

ICD-11 synonym : DHPR - [Dihydropteridine reductase] deficiency; DHPR deficiency;

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Dihydropteridine reductase (DHPR) deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterine deficiency, andis 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.

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24/05/2025


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