Abstract
Low levels of plasma and tissue carnitine (carn.) occur in defects in acyl-CoA metabolism, e.g., isovaleric acidemia (IVA), medium-chain acyl-CoA dehydrogenase deficiency (MC-ACD), propionic acidemia (PA), and methylmalonic acidemia (MMA). To see whether this secondary carn. deficiency is due to urinary wastage, we measured free (F), esterified (E), and total (T) carn. in plasma and urine in 4 patients with IVA, MC-ACD, PA, and MMA and in 6 control children on their usual diet. Plasma carn. (uM/1), urinary excretion rates (uM/gm creatinine), and (T) carn, fractional excretion (FE-T; % creat.clearance) were (m ± SEM):
In the patients with IVA and MC-ACD, fasts of 12-24 hr did not increase urine (T) carn.
These data suggest that carn, deficiency in these acyl-CoA metabolic defects is not due to excessive excretion, but may reflect reduced synthesis.
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Stanley, C., Berry, G., Yudkoff, M. et al. URINE CARNITINE EXCRETION IN SECONDARY CARNITINE DEFICIENCY. Pediatr Res 18 (Suppl 4), 300 (1984). https://doi.org/10.1203/00006450-198404001-01243
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DOI: https://doi.org/10.1203/00006450-198404001-01243
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