Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.

doi:10.1002/(SICI)1098-1004(1997)10:1<25::AID-HUMU4>3.0.CO;2-L

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Article

Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.

Human mutation - 1 Jan 1997

Oppliger T, Thöny B, Kluge C, Matasovic A, Heizmann C W, Ponzone A, Spada M, Blau N

Abstract excerpt

6-Pyruvoyl-tetrahydrobiopterin synthase (PTPS) is involved in tetrahydrobiopterin (BH4) biosynthesis, the cofactor for various enzymes including the hepatic phenylalanine hydroxylase. Inherited PTPS deficiency leads to BH4 depletion, causes hyperphenylalaninemia, and requires cofactor replacement therapy for treatment. We previously isolated the human PTPS cDNA and recently characterized its corresponding gene,...

Topics

Alcohol Oxidoreductases
Alleles
Amino Acid Metabolism, Inborn Errors
Blotting, Western
Cells, Cultured
DNA, Complementary
Enzyme Stability
Female
Heterozygote
Homozygote
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant, Newborn

Italy

Male

Molecular Sequence Data

Mutation

Pedigree

Phenylalanine

Source

Open in PubMed

Identifiers

PMID: 9222757
DOI: 10.1002/(SICI)1098-1004(1997)10:1<25::AID-HUMU4>3.0.CO;2-L

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Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.PMID 9222757Read ↗

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