Multi-disciplinary interventions for the management and prevention of methylmalonic academia / 中华实用儿科临床杂志

ABSTRACT

Methylmalonic acidemia (MMA) is a rare disease which can be prevented and treated.It is the most common organic aciduria in China.MMA has complex genotypes, and its onset varies from the fetal stage to adulthood, which with a high mortality and disability rate.If the treatment is delayed, most patients with MMA would suffer from neuropsychiatric disorders and multiple-organ damage, resulting in epilepsies, psychomotor retardation, anemia, hydrocephalus, cardiomyopathy, pulmonary hypertension, renal insufficiency and visual impairment, and so on.The significant phenotypic and outcomes differences of MMA patients depend on the disease types and the treatment.Newborn screening, prenatal diagnosis and early standardized treatment are the keys to improve the prognosis of the patients.To reduce the mortality and sequelae caused by MMA, multi-disciplinary interventions by neonatologists, critical care experts, geneticists, metabolic specialists, neurologists, cardiologists, nephrologists, pediatric surgeons, obstetricians, medical laboratory physicians, pharmacists, nutritionist and rehabilitation therapists are important.