《英文msh词典》Phenylalanine Hydroxylase Deficiency Disease
[同义词] Phenylalanine Hydroxylase Deficiency Disease
[主题词] Phenylketonurias
[中文释义] 苯丙氨酸羟化酶缺乏病
[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).