About The Medical Condition Deficiency Disease, Dihydropteridine Reductase

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Find the definition of the medical term Deficiency Disease, Dihydropteridine Reductase. Deficiency Disease, Dihydropteridine Reductase defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.

Deficiency Disease, Dihydropteridine Reductase

Deficiency Disease, Dihydropteridine Reductase Medical Condition Defined & Explained
Deficiency Disease, Dihydropteridine Reductase Medical Condition

What's The Definition Of The Medical Condition Deficiency Disease, Dihydropteridine Reductase?

A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).

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