Resumen

ESPINOSA, EUGENIA et al. METHYLMALONIC ACIDEMIA: REPORT OF A CASE AND REVIEW OF SCIENTIFIC LITERATURE. rev.fac.med [online]. 2014, vol.22, n.1, pp.62-67. ISSN 0121-5256.

Methylmalonic Acidemia is a disorder caused by an abnormality of methylmalonyl-CoA mutase or a deficiency of adenosylcobalamin as cofactor. This holoenzyme is involved in the catabolism of branched chain amino acids. It can present clinically either as a severe neonatal-onset form, or some progressive symptoms as hypotonia and developmental delay. Early diagnosis and treatment can alter the course and outcome. We report the case of a 3- month- old boy, with pancytopenia, hypotonia, developmental delay and seizures. Methylmalonic Acidemia was diagnosed by urinary organic acid chromatography. Patient was treated with Cyanocobalamin, dietary restriction and levetiracetam with favorable response. He is currently seizure free, development indexes are normal and pancytopenia has resolved. This case shows how early diagnosis and treatment in a patient with Methylmalonic Acidemia caused by cofactor deficiency may favor functional and neurologic outcomes.

Palabras clave : Methylmalonic acidemia; pancytopenia; Cyanocobalamin.

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