Differential diagnosis of hydroxydicarboxylic aciduria based on release of3H2O from [9,10‐3H]myristic and [9,10‐3H]palmitic acids by intact cultured fibroblasts

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Abstract
Summary: Intact cultured fibroblasts from patients with deficiency of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase release3H2O 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 palmitate)2/(rate with myristate) gives good differentiation between affected and unaffected cells. In some patients who have shown hydroxydicarboxylic aciduria when unwell there is reduced3H2O 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.

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