| 单词 | Phenylketonurias,Atypical |
| 释义 | Phenylketonurias,Atypical《英文msh词典》Phenylketonurias,Atypical [入口词] Phenylketonurias,Atypical [主题词] Phenylketonurias [英文释义] 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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