Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency

Human Genetics

Volumn 98, Issue 3, 1996, Pages 313-316

  Liu, Tze Tze ^a   Hsiao, Kwang Jen ^a,b  

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

^b TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; COMPLEMENTARY DNA; DYSPROPTERIN; NUCLEOTIDE; PROLINE; SERINE; SYNTHETASE; TETRAHYDROBIOPTERIN;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; INFANT; MALE; MISSENSE MUTATION; NEWBORN; NUCLEIC ACID BASE SUBSTITUTION; PHENYLKETONURIA; PRIORITY JOURNAL; RESTRICTION FRAGMENT; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SIBLING;

ADULT; ALCOHOL OXIDOREDUCTASES; BIOPTERIN; CHILD; CHILD, PRESCHOOL; CHINA; CODON; DNA, COMPLEMENTARY; HUMANS; INFANT; MALE; MUTATION; PHENYLKETONURIAS; PHOSPHORUS-OXYGEN LYASES;

EID: 0029736887     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050213     Document Type: Article

References (12)

1. Ashida A, Hatakeyama K, Kagamiyama H (1993) cDNA cloning, expression in Escherichia coli and purification of human 6- pyruvoyl-tetrahydropterin synthase. Biochem Biophys Res Commun 195:1386-1393
2. Ashida A, Owada M, Hatakeyama K (1994) A missense mutation (A-to-G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia. Genomics 24:408-410
3. Blau N, Thöny B, Heizmann CW, Dhondt JL (1993) Tetrahydrobiopterin deficiency: from phenotype to genotype. Pteridines 4: 1-10
4. Chen RG, Pan XS, Qian DL, Guo H (1989) Twenty-one cases of phenylketonuria out of 358767 newborns in Shanghai, China. J Inherited Metab Dis 12:485
5. Hsiao KJ (1992) Genetic disorders and neonatal screening. In: Miyai K, Kanno T, Ishikawa E (eds) Progress in clinical biochemistry. Elsevier, Amsterdam, pp 289-292
6. Hsiao KJ, Chiu PC, Cheng WH, Chao SL (1986) Atypical phenylketonuria with mild mental retardation caused by tetrahydrobiopterin deficiency in a Chinese family. J Inherited Metab Dis 9 [Suppl 2]:240-243
7. Hsiao KJ, Chiang SH, Liu TT, Chiu PC (1990) Tetrahydrobiopterin deficient phenylketonuria detected by neonatal screening in Taiwan. In: Curtius H-C, Ghisla S, Blau N (eds) Chemistry and biology of pteridines 1989. Walter de Gruyter, Berlin, pp 402-407
8. Imamura T, Okano Y, Sawada Y, Hase Y, Oura T, Isshiki G, Shintaku H (1995) A missense mutation of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese. Pteridines 5:31
9. Niederwieser A, Staudenmann W, Wetzel E (1982) Automatic HPLC of pterins with or without column switching. In: Wachter H, Curtius H-C, Pfleiderer W (eds) Biochemical and clinical aspects of pteridines, vol 1, cancer immunology metabolic diseases. (Proceedings of the first winter workshop on pteridines, Arlberg 1982) Walter de Gruyter, Berlin, pp 81-102
10. Oppliger T, Thöny B, Nar H, Bürgisser D, Huber R, Heizmann CW, Blau N (1995) Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. J Biol Chem 270:29498-29506
11. Scriver CR, Kaufman S, Eisensmith RC, Woo SLC (1995) The hyperphenylalaninemias. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th edn. McGraw-Hill, New York, pp 1015-1075
12. Thöny B, Leimbacher W, Bürgisser D, Heizmann CW (1992) Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme. Biochem Biophys Res Commun 189:1437-1443