Feasibility of molecular prenatal diagnosis of glutaric aciduria type I in chorionic villi

Journal of Inherited Metabolic Disease

Volumn 21, Issue 3, 1998, Pages 243-246

  Busquets, C ^a   Coll, M J ^a   Christensen, E ^b   Campistol, J ^c   Clusellas, N ^a   Vilaseca, M A ^c   Ribes, A ^a  

^a Institut de Bioquimica Clinica Barcelona   (Spain)

^b Rigshospitalet   (Denmark)

^c HOSPITAL SANT JOAN DE DÉU   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE;

ACIDURIA; AMNIOCENTESIS; AMNION FLUID ANALYSIS; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; CHORION VILLUS SAMPLING; CLINICAL FEATURE; CONFERENCE PAPER; DYSTONIA; ENZYME ACTIVITY; ENZYME DEFICIENCY; HUMAN; INFANT; MACROCEPHALY; MOLECULAR BIOLOGY; MOTOR DYSFUNCTION; NEUROLOGIC DISEASE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS;

AMINO ACID METABOLISM, INBORN ERRORS; CHILD; CHORION; FEASIBILITY STUDIES; FEMALE; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HUMANS; MALE; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PEDIGREE; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0031879871     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005359920675     Document Type: Conference Paper

References (8)

1. 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.
2. Campistol J, Ribes A, Alvarez L, Christensen E, Millington DS (1992) Glutaric aciduria type I: unusual biochemical presentation. J Pediatr 121: 83-86.
3. Christensen E (1994) Prenatal diagnosis of glutaryl-CoA dehydrogenase deficiency: experience using first-trimester chorionic villus sampling. Prenat Diagn 14: 333-336.
4. Christensen E, Ribes A, Busquets C, et al (1997) Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation on one allele is associated with no or very low glutarate excretion. J Inher Metab Dis 20: 383-386.
5. Goodman SI, Gallegos DA, Pullin CJ, et al (1980) Antenatal diagnosis of glutaric acidemia. Am J Hum Genet 32: 695-699.
6. Goodman SI, Kratz LE, Di Giulio KA, et al (1995) Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli. Hum Mol Genet 4: 1493-1498.
7. Koeller DM, DiGiulio KA, Angeloni SV et al (1995) Cloning, structure, and chromosome localization of the mouse glutaryl-CoA dehydrogenase gene. Genomics 28: 508-512.
8. Merinero B, Pérez-Cerdá C, Font LM, et al (1995) Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 26: 238-242.