21/24. 6-Methyluracil excretion in 2-methylacetoacetyl-CoA thiolase deficiency and in two children with an unexplained recurrent ketoacidaemia.6-Methyluracil (6MU) has been identified in urine collected during acute illness in two children with beta-ketothiolase deficiency (approximately 1 mmol/L) and in two children with recurrent infection-related ketoacidaemia of unknown aetiology (levels of 6.3 and 7.1 mmol/mmol creatinine). Significant amounts of 6MU were not detected in children with fasting ketosis in whom a metabolic disorder was excluded (normal levels less than 25 mumol/mmol creatinine). We propose that the production of 6MU may be related to the accumulation of acetoacetyl-CoA and thus be a marker for disorders where this occurs.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
22/24. Ketonic diet in the management of pyruvate dehydrogenase deficiency.Two brothers, aged 11 years 6 months and 2 years 3 months, with psychomotor and growth retardation, episodes of weakness, ataxia, ophthalmoplegia, and elevated levels of blood pyruvate were shown to have a deficiency in the pyruvate dehydrogenase complex (PDH). When they ate a diet high enough in fats to cause ketonemia but not acidosis, there was a fall in blood pyruvate levels, a decrease in the frequency and severity of the episodes of neurological deterioration, an increased rate of growth and development in the younger brother, and increased strength and endurance in the older one. The possibility of dietary treatment makes the early diagnosis of PDH deficiency more important. Determination of blood pyruvate and lactate levels following a standard glucose meal (glucose-pyruvate test) appears to be the most reliable screening test for this condition.- - - - - - - - - - ranking = 1.2keywords = deficiency (Clic here for more details about this article) |
23/24. Protection against cardiovascular collapse in an alcoholic patient with thiamine deficiency by concomitant alcoholic ketoacidosis.Hyperlactataemia due to thiamine deficiency has so far only been reported in the setting of full-blown cardiovascular beriberi with congestive heart failure and systemic vasodilatation. Poor tissue oxygenation and impaired lactate clearance by the liver are generally accepted as underlying causes of the elevated lactate levels. We present an alcoholic patient with thiamine deficiency-induced hyperlactataemia and accompanying alcoholic ketoacidosis, who did not display the circulatory disturbances that are characteristic of cardiovascular beriberi. The hypothesis will be presented that the concomitant presence of alcoholic ketoacidosis has prevented haemodynamic deterioration. Putative mechanisms that could explain such an effect are discussed in detail, with special reference to the role of acetyl-CoA and adenosine.- - - - - - - - - - ranking = 1.2keywords = deficiency (Clic here for more details about this article) |
24/24. Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature.We describe the clinical symptoms and biochemical findings of a patient with succinyl-CoA:acetoacetate transferase deficiency who presented in the neonatal period and review the current literature on this subject. Our patient was initially suspected to have distal renal tubular acidosis, and subsequently, a fasting test revealed severe metabolic ketoacidosis with normal blood glucose after 13 h which suggest a defect in ketolysis. In his cultured skin fibroblasts succinyl-CoA:acetoacetate transferase was deficient (residual activity 15%). Treatment in the acute phase consisted of sodium bicarbonate. At the present age of 9 years, psychomotor and physical development are within normal limits. Conclusion: Defects of ketolysis probably are underdiagnosed disorders and should be considered in infants and young children with persistent ketosis.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
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