Differential diagnosis of hydroxydicarboxylic aciduria based on release of 3H2O from [9,10-3H]myristic and [9,10-3H]palmitic acids by intact cultured fibroblasts

Autor:	S E, Olpin, N J, Manning, K, Carpenter, B, Middleton, R J, Pollitt
Rok vydání:	1992
Předmět:	Diagnosis Differential 3-Hydroxyacyl CoA Dehydrogenases Humans Water Dicarboxylic Acids Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase Palmitic Acids Fibroblasts Tritium Myristic Acids Oxidation-Reduction Cells Cultured
Zdroj:	Journal of inherited metabolic disease. 15(6)
ISSN:	0141-8955
Popis:	Intact cultured fibroblasts from patients with deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase release 3H2O from [9,10-3H]myristic acid and [9,10-3H]palmitic acid more slowly than normal. The ratio of activity (palmitate/myristate) is also low and the expression (rate with palmitate2/(rate with myristate) gives good differentiation between affected and unaffected cells. In some patients who have shown hydroxydicarboxylic aciduria when unwell there is reduced 3H2O production from [9,10-3H]myristic and [9,10-3H]palmitic acids by intact cultured fibroblasts but normal 3-hydroxyacyl-CoA dehydrogenase activities in disrupted cells. The palmitate/myristate ratio is higher than in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. The basic defect in these patients is still unknown but it is suggested that caution be used over the administration of medium-chain triglyceride.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::6a0ff6b6a37366c6dc6631e8956e6c14 https://pubmed.ncbi.nlm.nih.gov/1293385 Zobrazit plný text záznamu Full text from SpringerLink Plný text