About The Medical Condition Hyperphenylalaninaemia
Find the definition of the medical term Hyperphenylalaninaemia. Hyperphenylalaninaemia defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Hyperphenylalaninaemia
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What's The Definition Of The Medical Condition Hyperphenylalaninaemia?
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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