Molecular Basis of Phenotypic Heterogeneity in Phenylketonuria
Open Access
- 2 May 1991
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 324 (18) , 1232-1238
- https://doi.org/10.1056/nejm199105023241802
Abstract
Phenylketonuria is a metabolic disorder that results from a deficiency of the hepatic enzyme phenylalanine hydroxylase. Its clinical phenotype varies widely, and to date more than 10 mutations in the phenylalanine hydroxylase gene have been identified in persons with the disorder. We attempted to relate the clinical phenotype of patients to their genotype.Keywords
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