Clinical analysis of methylmalonic acidmia in 26 cases and literatare review / 国际儿科学杂志

ABSTRACT

Objective To explore the clinical characteristics and treatment of methylmalonic acidemia(MMA) in order to improve our understanding of it.Methods We analyzed the clinical manifestations,laboratory examinations and treatments of 26 cases of methylmalonic acidemia in children.Results Twenty-four cases were involved in nervous system.Nine patients were involved in renal system.Eight cases of hematological involved.Liver enzyme elevated in 2 cases as well as the cardiac system were involved in 3 cases.One case was with pneumonia onset.The laboratory findings showed metabolic acidosis in 12 cases,hyperhomocysteinemia in 8 cases and remarkable elevation of urinary methylmalonic acid concentration in all cases.Some abnormalities in globus pallidus and cerebral white matter as well as diffuse cerebral atrophy were noted by the brain CT and MRI in 15 cases.Sixteen children have received therapy of vitamin B12,and supplementation of L-carnitine with restricted-protein diet.The follow-up for a period ranging from 3 months to 1.5 years( mean 8.5 months) of 15 cases with medical therapy showed a favorable outcome of nervous system improvement in 12 cases,however,2 patients died from severe metabolic acidosis.8 patients with renal involvement were normal in urine routine and renal function.Conclusion Methylmalonic acidemia has different clinical features,so early urine organic acids analysis by GC/MS method is essential Long-term and reasonable treatment after diagnosis is an effective way to improve the prognosis.