Antenatal expression of multiple acyl-CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease

Volumn 23, Issue 4, 2000, Pages 345-348

  Vianey Saban, C ^a   Bouvier, R ^b   Cochat, P ^b   Buenerd, A ^b   Divry, P ^a   Dumoulin, R ^a   Cordier, M P ^b  

^a HÔPITAL DEBROUSSE   (France)

^b EDOUARD HERRIOT HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; FLAVOPROTEIN;

CASE REPORT; CLINICAL FEATURE; CONFERENCE PAPER; ELECTRON TRANSPORT; ENZYME DEFICIENCY; HUMAN; KIDNEY POLYCYSTIC DISEASE; MALE; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PRENATAL DIAGNOSIS; RESPIRATORY CHAIN;

ACYL-COA DEHYDROGENASE; ACYL-COA DEHYDROGENASES; CELLS, CULTURED; ELECTRON-TRANSFERRING FLAVOPROTEINS; FATAL OUTCOME; FATTY ACIDS; FETAL DISEASES; FIBROBLASTS; FLAVOPROTEINS; GLUTARATES; HUMANS; INFANT, NEWBORN; IRON-SULFUR PROTEINS; LIPID METABOLISM, INBORN ERRORS; MALE; MULTIENZYME COMPLEXES; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS;

EID: 0034081437     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005623028638     Document Type: Conference Paper

References (7)

1. Amendt BA, Rhead WJ (1986) The multiple acyl-CoA dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. J Clin Invest 78: 205-213.
2. Beckmann JD, Frerman FE (1985) Electron transfer flavoprotein ubiquinone oxidoreductase from pig liver: purification, molecular redox and catalytic properties. Biochemistry 24: 3913-3921.
3. Frerman FE, Goodman SI (1995) Nuclear encoded defects of the mitochondrial respiratory chain, including glutaric aciduria type II. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1611-1629.
4. Lazarow PB, Moser HW (1995) Disorders of peroxisome biogenesis. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 2287-2324.
5. Paavola P (1997) Clinical and genetic herogeneity in Meckel syndrome. Hum Genet 101: 88-92.
6. Vianey-Saban C, Mousson B, Bertrand C, et al (1993) Carnitine palmitoyltransferase I deficiency presenting as a Reye-like syndrome without hypoglycemia. Eur J Pediatr 152: 334-338.
7. Witt DR, Theobald M, Santa Maria M, et al (1991) Carnitine palmitoyltransferase-type 2 deficiency: two new cases and successful prenatal diagnosis. Am J Hum Genet (Suppl) 49: 109.