Folling Diseases

《英文msh詞典》Folling Diseases
[入口詞] Folling Diseases
[主題詞] Phenylketonurias
[英文釋義] 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).