Impaired mitochondrial fatty acid oxidative flux in fibroblasts from a patient with malonyl-CoA decarboxylase deficiency

Molecular Genetics and Metabolism

Volumn 73, Issue 3, 2001, Pages 276-279

  Bennett, Michael J ^a   Harthcock, Pamela A ^a   Boriack, Richard L ^a   Cohen, Jonathan C ^b  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b CHILDREN S MEDICAL CENTER   (United States)

Author keywords

Carnitine palmitoyltransferase 1; Fatty acid oxidation; Intermediary metabolism; Malonic aciduria; Malonyl CoA decarboxylase

Indexed keywords

CARBOXYLYASE; MALONYL COENZYME A DECARBOXYLASE; MYRISTIC ACID; PALMITIC ACID; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; FATTY ACID OXIDATION; HUMAN; HUMAN CELL; LIPID ANALYSIS; METABOLIC DISORDER; PHENOTYPE; PRIORITY JOURNAL; SKIN FIBROBLAST;

EID: 0034900629     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2001.3196     Document Type: Article

References (15)

1. Malonyl-CoA and carnitine palmitoyltransferase I: An expanding partnership
2. Malonyl coenzyme A decarboxylase deficiency
3. Malonyl coenzyme A decarboxylase deficiency. Clinical and biochemical findings in a second child with more severe enzyme defect
4. Malonic aciduria and cardiomyopathy
5. Malonylcoenzyme A decarboxylase deficiency
6. Association of malonyl-CoA decarboxylase deficiency and heterozygous state for haemoglobin C disease
7. A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy
8. Cloning and mutational analysis of human malonyl-CoA decarboxylase
9. Malonic aciduria due to mitochondrial malonyl coenzyme A decarboxylase deficiency: A rare inborn error of metabolism
10. The molecular basis of malonyl-CoA decarboxylase deficiency
11. 3H]myristic acids for the detection of fatty acid oxidation defects in cultured fibroblasts
12. Regulation of ketogenesis and the renaissance of carnitine palmitoyltransferase
13. The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis
14. Carnitine palmitoyltransferase deficiencies
15. MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and is mutated in malonyl-CoA decarboxylase deficiency