About The Medical Condition Phenylalanine Hydroxylase Deficiency Disease, Severe
Find the definition of the medical term Phenylalanine Hydroxylase Deficiency Disease, Severe. Phenylalanine Hydroxylase Deficiency Disease, Severe defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Phenylalanine Hydroxylase Deficiency Disease, Severe
| Phenylalanine Hydroxylase Deficiency Disease, Severe Medical Condition |
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What's The Definition Of The Medical Condition Phenylalanine Hydroxylase Deficiency Disease, Severe?
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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