Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis
โ Scribed by M. Brivet; A. Slama; H. Ogier; A. Boutron; F. Demaugre; J. M. Saudubray; A. Lemonnier
- Book ID
- 104900264
- Publisher
- Springer
- Year
- 1994
- Tongue
- English
- Weight
- 233 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0141-8955
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๐ SIMILAR VOLUMES
The enzyme carnitine-acylcarnitine translocase (CACT) is involved in the transport of long-chain fatty acids into mitochondria. CACT deficiency is a life-threatening, recessively inherited disorder of lipid beta-oxidation which manifests in early infancy with hypoketotic hypoglycemia, cardiomyopathy
A protocol for the identification and estimation of short-chain esters of carnitine is described; it is useful for the diagnosis of acidemias. By this method, camitine esters in urine are converted to coenzyme A esters enzymatically with camitine acetyltransferase (CAT): short-chain acylcamitine + C