Diagnosis and Treatment of Methylmalonic Acidemia in 14 Cases

The study analyzed 14 patients with methylmalonic acidemia (MMA) to understand its clinical characteristics and treatment. The patients, aged from birth to 9 years, exhibited symptoms such as lethargy, developmental retardation, convulsions, and yellowish hair. Laboratory findings included metabolic acidosis and elevated urinary methylmalonic acid. Early diagnosis using gas chromatography/mass spectrometry (GC/MS) and treatment with vitamin B12, L-carnitine, and a restricted-protein diet were crucial. Of the 11 survivors, 7 showed favorable outcomes with medical therapy, though 2 died from severe metabolic acidosis. Early diagnosis and appropriate long-term treatment were essential for improving prognosis.