The role of methionine in ethylmalonic encephalopathy with petechiae.
BACKGROUND: Among patients with ethylmalonic aciduria, a subgroup with encephalopathy, petechial skin lesions, and often death in infancy is distinct from those with short-chain acyl-coenzyme A dehydrogenase deficiency or multiple acyl-coenzyme A dehydrogenase deficiency. The nature of the molecular defect in this subgroup is unknown, and the source of the ethylmalonic acid has been unclear. OBJECTIVE: To determine whether the administration of candidate amino acids increased the excretion of ethylmalonic acid. DESIGN: Examination of patterns of organic acids excreted in the urine before and following loading doses of isoleucine and methionine. SETTING: General clinical research center. PATIENT: An infant with ethylmalonic aciduria, global developmental delay, acrocyanosis, and intermittent showers of petechiae. MAIN OUTCOME MEASURE: Excretion of ethylmalonic acid in the urine. RESULTS: Loading with methionine increased the excretion of ethylmalonic acid, whereas loading with isoleucine did not. Restriction of the dietary intake of methionine decreased ethylmalonic acid excretion. CONCLUSION: In ethylmalonic acid encephalopathy with petechiae, methionine is a precursor of ethylmalonic acid.[1]References
- The role of methionine in ethylmalonic encephalopathy with petechiae. McGowan, K.A., Nyhan, W.L., Barshop, B.A., Naviaux, R.K., Yu, A., Haas, R.H., Townsend, J.J. Arch. Neurol. (2004) [Pubmed]
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