LEADER 00000cz   2200205n  4500 
001    sh 85100698  
003    DLC 
005    20180713130405.1 
008    860211i| anannbabn          |a ana       
010    sh 85100698 
040    DLC|cDLC|dDLC 
150    Phenylketonurias 
450    Folling disease 
450    |wnne|aPhenylketonuria 
450    Oligophrenia, Phenylpyruvic 
450    Phenylpyruvic oligophrenia 
450    PKUs (Diseases) 
550    |wg|aAmino acids|xMetabolism|xDisorders 
550    |wg|aMetabolism, Inborn errors of 
670    MeSH, June 12, 2018|b(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)