Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): Review and report of thirty novel mutations

Human Mutation

Volumn 12, Issue 3, 1998, Pages 141-144

  Goodman, Stephen I ^a   Stein, Donna E ^a   Schlesinger, Sudha ^a   Christensen, Ernst ^b   Schwartz, Marianne ^b   Greenberg, Cheryl R ^c   Elpeleg, Orly N ^d  

^a UNIVERSITY OF COLORADO   (United States)

^b Rigshospitalet   (Denmark)

^c UNIVERSITY OF MANITOBA   (Canada)

^d SHAARE ZEDEK MEDICAL CENTER   (Israel)

Author keywords

Glutaric acidemia (type I); Glutaryl CoA dehydrogenase

Indexed keywords

GLUTARYL COENZYME A DEHYDROGENASE;

ENZYME DEFICIENCY; ESCHERICHIA COLI; GENE EXPRESSION; GENE MUTATION; GENOTYPE; HUMAN; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

AMINO ACID METABOLISM, INBORN ERRORS; GENOTYPE; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HUMANS; MUTATION; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PHENOTYPE;

ESCHERICHIA COLI;

EID: 0031880503     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)12:3<141::AID-HUMU1>3.0.CO;2-K     Document Type: Review

References (15)

1. Amir N, Elpeleg ON, Shalev RS, Christensen E (1989) Glutaric aciduria type I. Enzymatic and neuroradiologic investigation of two kindreds. J Pediatr 114:983-989.
2. Anikster Y, Shaag A, Joseph A, Mandel H, Ben-Zeev B, Christensen E, Elpeleg ON (1996) Glutaric aciduria type I in the Arab and Jewish communities in Israel. Am J Hum Genet 59:1012-1018.
3. Bergman I, Finegold D, Gartner JC, Zitelli BJ, Claassen D, Scarano J, Roe CR, Stanley C, Goodman SI (1989) Acute profound dystonia in infants with glutaric acidemia. Pediatrics 83:228-234.
4. Biery BJ, Stein DE, Morton DH, Goodman SI (1996) 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 59:1006-1011.
5. Christensen E, Ribes A, Busquets C, Pineda M, Duran M, Poll-The BT Greenberg CR, Leffers H, Schwartz M (1997) Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P in one allele is associated with no or very low free glutarate excretion. J Inher Metab Dis 20.383-386.
6. Goodman SI, Frerman FE (1995) Organic acidemias due to defects in lysine oxidation. 2-ketoadipic acidemia and glutaric acidemia. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease. 7th Ed. New York: McGraw-Hill, pp 1451-1460.
7. Goodman SI, Kratz LE, Frerman FE (1992) Pork and human cDNAs encoding glutaryl-CoA dehydrogenase. In Coates PM, Tanaka K (eds). New Developments in Fatty Acid Oxidation. New York: Wiley-Liss, pp 169-173.
8. Goodman SI, Kratz LE, DiGiulio KA, Biery BJ, Goodman KE, Isaya G, Frerman FE (1995) Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli, Hum Mol Genet 4.1493-1498.
9. Greenberg CR, Duncan AMV, Gregory CA, Singal R, Goodman SI (1994) Assignment of human glutaryl-CoA dehydrogenase gene (GCDH) to the short arm of chromosome 19 (19p13.2) by in situ hybridization and somatic cell hybrid analysis. Genomics 21: 289-290.
10. Greenberg CR, Reimer D, Singal R, Triggs-Raine B, Chudley AE, Dilling LA, Philipps S, Haworth JC, Seargeant LE, Goodman SI (1995) A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I. Hum Mol Genet 4:493-495.
11. Haworth JC, Booth FA, Chudley AE, Degroot GW, Dilling LA, Goodman SI, Greenberg CR, Mallory CJ, McClarty BM, Seshia SS, Seargeant LE (1991) Phenotypic variability in glutaric aciduria type I. Report of fourteen cases in five Canadian Indian kindreds. J Pediatr 118.52-58.
12. Hoffman GF, Athanassopoulos S, Burlina AB, Duran M, de Klerk JBC, Lehnert W, Leonard JV, Monavari AA, Muller E, Muntau AC, Naughten ER, Plecko-Starting B, Superti-Furga A, Zschocke J, Christenen E (1996) Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 27.115-123.
13. Koeller DM, DiGiulio KA, Angeloni SV, Dowler LL, Frerman FE, White RA, Goodman SI (1995) Cloning, structure, and chromosome localization of the mouse glutaryl-CoA dehydrogenase gene. Genomics 28:508-512.
14. Morton DH, Bennett MJ, Seargeant LE, Nichter CA, Kelley RI (1991) Glutaric aciduria type I: A common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania. Am J Med Genet 41:89-95.
15. Schwartz M, Christensen E, Superti-Furga A, Brandt NJ (1998) The human glutaryl-CoA dehydrogenase gene: Report of intronic sequences and of thirteen novel mutations causing glutaric aciduria type I. Hum Genet 102:452-458.