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PMID: 4405625 Published · ppublish English Journal Article

Detection of hepatic phenylalanine 4-hydroxylase in classical phenylketonuria.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 70 ·No. 2 ·1973-02-00 ·Pages 552-6

Friedman PA, Fisher DB, Kang ES, Kaufman S

Abstract

An extract from a liver biopsy of a patient with classical phenylketonuria contains phenylalanine 4-hydroxylase (EC 1.14.3.1) with a specific activity 0.27% of the normal activity of the hydroxylase. This enzyme from a patient with phenylketonuria is a structurally altered form of phenylalanine 4-hydroxylase that probably results from a mutation in the gene coding for the hydroxylase.

MeSH Terms
Carbon Isotopes Enzyme Induction/drug effects Humans Kinetics Liver/enzymology Lysophosphatidylcholines/pharmacology Phenylalanine/metabolism Phenylalanine Hydroxylase/analysis,metabolism Phenylketonurias/enzymology Pterins/pharmacology Tyrosine/biosynthesis Tyrosine 3-Monooxygenase/metabolism
Chemicals
Carbon Isotopes Lysophosphatidylcholines Pterins Tyrosine Phenylalanine Phenylalanine Hydroxylase Tyrosine 3-Monooxygenase
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Friedman P A
Fisher D B
Kang E S
Kaufman S
References (21)
21 references, click to expand
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.70.2.552
Published
1973-02-00
Pages
552-6
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC433304
Subset
IM
External Links
PubMed source DOI: 10.1073/pnas.70.2.552 PMC Full Text View journal details
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