Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS.

doi:10.1002/1098-1004(200007)16:1<54::AID-HUMU10>3.0.CO;2-C

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Article

Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS.

Human mutation - 1 Jan 2000

Blau N, Scherer-Oppliger T, Baumer A, Riegel M, Matasovic A, Schinzel A, Jaeken J, Thöny B

Abstract excerpt

6-Pyruvoyl-tetrahydropterin synthase (PTS or PTPS) is involved in tetrahydrobiopterin (BH(4)) biosynthesis, the cofactor for various enzymes including the aromatic amino acid hydroxylases. Inherited PTPS deficiency is a heterogeneous disease with different phenotypes leading to BH(4) depletion. The severe form of PTPS deficiency causes hyperphenylalaninemia and monoamine neurotransmitter deficiency, whereas the...

Topics

Alleles
Biopterins
Blotting, Western
Cells, Cultured
Child
Chromosomes, Human, Pair 11
DNA Mutational Analysis
Female
Haplotypes
Humans
In Situ Hybridization, Fluorescence
Lymphocytes
Male
Microsatellite Repeats

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Mutation

Pedigree

Phenotype

Phenylketonurias

Source

Open in PubMed

Identifiers

PMID: 10874306
DOI: 10.1002/1098-1004(200007)16:1<54::AID-HUMU10>3.0.CO;2-C

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