Abstract
Two new cases of malonyl coenzyme A (CoA) decarboxylase deficiency are described. Hitherto, the worldwide experience of the disorder has been confined to reports on two affected Australian children. The new cases are Scots born and are the offspring of consanguinous parents of Scots/Irish origin. They were investigated during episodes of vomiting and febrile convulsions associated with concomitant developmental delay. Malonic aciduria and grossly reduced malonyl CoA decarboxylase activity were demonstrated and the total ion current chromatograms of urinary organic acid profiles obtained by gas chromatography-mass spectrometry are presented. The clinical and biochemical features of the Scots and Australian patients are compared.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Bhuiyan A. K., Watmough N. J., Turnbull D. M., Aynsley-Green A., Leonard J. V., Bartlett K. A new simple screening method for the diagnosis of medium chain acyl-CoA dehydrogenase deficiency. Clin Chim Acta. 1987 May 29;165(1):39–44. doi: 10.1016/0009-8981(87)90216-6. [DOI] [PubMed] [Google Scholar]
- Haan E. A., Scholem R. D., Croll H. B., Brown G. K. Malonyl coenzyme A decarboxylase deficiency. Clinical and biochemical findings in a second child with a more severe enzyme defect. Eur J Pediatr. 1986 Apr;144(6):567–570. doi: 10.1007/BF00496037. [DOI] [PubMed] [Google Scholar]
- Jang S. H., Cheesbrough T. M., Kolattukudy P. E. Molecular cloning, nucleotide sequence, and tissue distribution of malonyl-CoA decarboxylase. J Biol Chem. 1989 Feb 25;264(6):3500–3505. [PubMed] [Google Scholar]
- McGarry J. D., Foster D. W. Regulation of hepatic fatty acid oxidation and ketone body production. Annu Rev Biochem. 1980;49:395–420. doi: 10.1146/annurev.bi.49.070180.002143. [DOI] [PubMed] [Google Scholar]
- Tanaka K., Hine D. G., West-Dull A., Lynn T. B. Gas-chromatographic method of analysis for urinary organic acids. I. Retention indices of 155 metabolically important compounds. Clin Chem. 1980 Dec;26(13):1839–1846. [PubMed] [Google Scholar]
- Tanaka K., West-Dull A., Hine D. G., Lynn T. B., Lowe T. Gas-chromatographic method of analysis for urinary organic acids. II. Description of the procedure, and its application to diagnosis of patients with organic acidurias. Clin Chem. 1980 Dec;26(13):1847–1853. [PubMed] [Google Scholar]