Mutation analysis in glutaric aciduria type I

Journal of Medical Genetics

Volumn 37, Issue 3, 2000, Pages 177-181

  Zschocke, Johannes ^a   Quak, Elfriede ^a   Guldberg, Per ^b   Hoffmann, Georg F ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

Denaturing gradient gel electrophoresis; Glutaric aciduria type I; Glutaryl CoA dehydrogenase; Mutation

Indexed keywords

CARNITINE; GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE;

ACIDURIA; ALLELE; ARTICLE; COST EFFECTIVENESS ANALYSIS; CPG ISLAND; DENATURING GRADIENT GEL ELECTROPHORESIS; DIET SUPPLEMENTATION; ENZYME DEFICIENCY; EUROPE; GENE MUTATION; GENETIC HETEROGENEITY; HAPLOTYPE; HUMAN; INFANT; METABOLIC ENCEPHALOPATHY; PRIORITY JOURNAL; URINARY EXCRETION;

EID: 0034011279     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.3.177     Document Type: Article

References (14)

1. Hoffmann GF, Athanassopoulos A, Burlina A, et al. Clinical course, early diagnosis, treatment and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 1996;27:115-23.
2. Baric I, Zschocke J, Christensen E, et al. Diagnosis and management of glutaric aciduria type I. J Inherit Metab Dis 1998;21:326-40.
3. Goodman SI, Kratz LE, DiGiulio KA, et al. Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli. Hum Mol Genet 1995;4:1493-8.
4. Schwartz M, Christensen E, Superti-Furga A, Brandt NJ. The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. Hum Genet 1998;102:452-8.
5. Goodman SI, Stein DE, Schlesinger S, et al. Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. Hum Mutat 1998;12:141-4.
6. Biery BJ, Stein DE, Morton DM, Goodman SI. Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. Am J Hum Genet 1996;59:1006-11.
7. Guldberg P, Güttler F. 'Broad-range' DGGE for single-step mutation scanning of entire genes: application to human phenylalanine hydroxylase gene. Nucleic Acids Res 1994;22: 880-1.
8. Eiken HG, Odland E, Borman H, Skjelkvåle L, Engebretsen LF, Apold J. Application of natural and amplification created restriction sites for the diagnosis of PKU mutations. Nucleic Acids Res 1991;19:1427-30.
9. Antonarakis SE, the Nomenclature Working Group. Recommendations for a nomenclature system for human gene mutations. Hum Mutat 1998;11:1-3.
10. Bird AP. CpG-rich islands and the function of DNA methylation. Nature 1986;321:209-13.
11. Zschocke J, Quak E, Knauer A, Fritz B, Asian M, Hoffman GF. Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis. J Inherit Metab Dis 1999;22:687-92.
12. Christensen E, Ribes A, Busquets C, et al. Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P muration in one allele is associated with no or very low free glutarate excretion. J Inherit Metab Dis 1997;20: 383-6.
13. Nyhan WL, Zschocke J, Hoffmann GF, Stein DE, Bao L, Goodman S. Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria. Mol Genet Metab 1999;66:199-204.
14. Liesert M, Zschocke J, Hoffmann GF, Mühlhäuser N, Buckel W. Biochemistry of glutaric aciduria type I: activities of in vitro expressed wild-type and mutant cDNA encoding human glutaryl-CoA dehydrogenase. J Inherit Metab Dis 1999;22:256-8.