found: MeSH, June 12, 2018(Phenylketonurias; scope note: 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. Entry version: PKU. Entry terms include: Folling disease, Oligophrenia Phenylpyruvica. Mapped to: Brain diseases, Metabolic, Inborn; and Metabolism, Inborn errors)
