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Phenylketonurias

"Phenylketonurias" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

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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).


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This graph shows the total number of publications written about "Phenylketonurias" by people in this website by year, and whether "Phenylketonurias" was a major or minor topic of these publications.
Bar chart showing 2 publications over 2 distinct years, with a maximum of 1 publications in 2000 and 2004
To see the data from this visualization as text, click here.
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