Progress of Diagnosis and Therapy in Methylmalonic Acidemia
WANG Fei , HAN Lian-shu
(Department of Pediatric Endocrinology and Genetic mextabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medical, Shanghai 200092, China)
Abstract: Methylmalonic acidemia is an autosomal recessive organic acidemia, which is charactered by various presentations, especially the neurological symptoms such as vomiting, lethargy and so on. The diagnosis of this disease depends on the measurement of acylcarnitine in the blood by gas-chromatography mass spectrometry and the detection of methylmalonic acid in the urine by tandem mass spectrometry. The patients with methylmalonic acidemia and homocystinuria should be mainly treated with vitamin B12, betaine and L-carnitine, while the patients with isolated methymalonic acidemia should be treated with protein restriction, the special milk formula without isoleucine, valine, methionine, and threonine, and be given L-carnitine. Compared with the vitamin B12-nonresponsive patients, the vitamin B12-responsive ones have better outcome.