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

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 th...

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Veröffentlicht in:	Human mutation 1997, Vol.10 (1), p.25-35
Hauptverfasser:	Oppliger, Tanja, Thöny, Beat, Kluge, Claudia, Matasovic, Ana, Heizmann, Claus W., Ponzone, Alberto, Spada, Marco, Blau, Nenad
Format:	Artikel
Sprache:	eng
Schlagworte:	6-pyruvoyl-tetrahydrobiopterin synthase Alcohol Oxidoreductases - blood Alcohol Oxidoreductases - deficiency Alcohol Oxidoreductases - genetics Alleles Amino Acid Metabolism, Inborn Errors - enzymology Amino Acid Metabolism, Inborn Errors - genetics Blotting, Western Cells, Cultured DNA, Complementary - genetics Enzyme Stability Female Heterozygote Homozygote Humans hyperphenylalaninemia Infant, Newborn Italy Male Molecular Sequence Data Mutation Pedigree Phenylalanine - blood Phosphorus-Oxygen Lyases Pterins - cerebrospinal fluid Pterins - urine recombinant expression Recombinant Proteins - metabolism Sequence Analysis, DNA tetrahydrobiopterin deficiency tetrahydrobiopterin deficiency, 6‐pyruvoyl‐tetrahydrobiopterin synthase Transfection - genetics
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