迟发型3-羟基-3-甲基戊二酸尿症导致脑白质病

Leucodystrophy induced by late onset 3-hydroxy-3-methylglutaric aciduria

摘要:

3-羟基-3-甲基戊二酸尿症是一种罕见的有机酸代谢病，病因为常染色体隐性遗传所导致的3-羟基-3-甲基戊二酰辅酶A裂解酶缺陷。患者通常在新生儿期至婴幼儿期发病。本研究报告1例晚发型3-羟基3-甲基戊二酸尿症导致的脑白质病。患儿为7岁男孩，急性起病，表现为头痛、困倦、呕吐, 进行性加重，一般化验发现肝损害、酮症、白细胞减少，脑磁共振扫描示双侧脑白质对称弥漫性病变。血液羟异戊酰肉碱、乙酰肉碱显著增高。尿液3-羟基-3-甲基戊二酸显著增高，3-甲基戊烯二酸、3-羟基戊二酸、甲基巴豆酰甘氨酸增高。经静脉滴注葡萄糖和左旋肉碱症状缓解。维持治疗半年后复诊，尿3-羟基3-甲基戊二酸降低，全身情况良好。

Abstract:

3-Hydroxy-3-methylglutaric aciduria is a rare disorder of organic acid metabolism caused by 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. The disorder was common in neonatal or infant period. Here a case of late onset 3-hydroxy-3-methylglutaric aciduria complicated by leucodystrophy was reported. The patient was a 7-year-old boy. He presented with progressive headache, drowsiness and vomiting. Hepatic lesions, ketosis and leucopenia were found. Symmetrical diffused leucodystrophy was shown by MRI. Blood levels of isovalerylcarnitine and acetylcarnitine increased significantly. Urinary levels of 3-hydroxy-3-methylglutaric, 3-methylglutaconic, 3-hydroxyglutaric acids and 3-methyl-crotonylglycine increased significantly. Symptoms were released by intravenous infusion of L-carnitine and glucose. After treatment for 6 months, urinary levels of 3-hydroxy-3-methylglutaric aciduria decreased in the boy and his health improved.