Other terms
Phenylketonuria,Phenylketonuria II,Phenylketonuria IIs,Phenylketonuria, Atypical,Atypical Phenylketonuria,Atypical Phenylketonurias,Phenylketonurias, Atypical,Deficiency Disease, Dihydropteridine Reductase,Dihydropteridine Reductase Deficiency Disease,Phenylketonuria Type 2,Phenylketonuria Type 2s,Type 2, Phenylketonuria,Type 2s, Phenylketonuria,Phenylketonuria I,Phenylketonuria Is,Deficiency Disease, Phenylalanine Hydroxylase, Severe,Phenylketonuria, Classical,Classical Phenylketonuria,Classical Phenylketonurias,Phenylketonurias, Classical,Folling's Disease,Disease, Folling's,Phenylalanine Hydroxylase Deficiency Disease,Phenylalanine Hydroxylase Deficiency Disease, Severe,Deficiency Disease, Phenylalanine Hydroxylase,Folling Disease,Disease, Folling,Diseases, Folling,Folling Diseases,Hyperphenylalaninaemia,Hyperphenylalaninaemias,Hyperphenylalaninemia, Non-Phenylketonuric,Hyperphenylalaninemia, Non Phenylketonuric,Hyperphenylalaninemias, Non-Phenylketonuric,Non-Phenylketonuric Hyperphenylalaninemia,Non-Phenylketonuric Hyperphenylalaninemias
Description
Phenylketonurias: 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).
Pervious tree
Next tree
Other locations in tree
Legal notice
The U.S. National Library of Medicine is the creator, maintainer, and provider of the data above.
The version of the data is 2010 MeSH. Last reviewed April 26, 2010. No modification has been made in the content of the file.
Neither the United States Government, nor any of its agencies, contractors, subcontractors or employees makes any warranties, expressed or implied, with respect to data contained in the database, and, furthermore, assumes no legal liability for any party's use, or the results of such use, of any part of the database.
You will not assert any proprietary rights to any portion of the database, or represent the database or any part thereof to anyone as other than a United States Government database.
The MeSH data carry an international copyright outside the United States, its Territories or Possessions. These terms and conditions are in effect as long as the user retains any of the MeSH data obtained from this site.