Functional decompensation after administration of compound diphenoxylate in a maple syrup urine disease patient:case report and literature review

VernacularTitle:枫糖尿病患者服用复方地芬诺酯后功能失代偿1例并文献复习
Author: Qi ZHANG ¹ ; Qian LU ; Xiuyu SHI ; Liping ZOU
Author Information

1. 解放军医学院，北京　100853
Keywords: Maple syrup urine disease; Compound diphenoxylate(lomotil); Unsteadiness; Vitamin B
From: Chinese Journal of General Practitioners 2023;22(1):78-82
CountryChina
Language:Chinese
Abstract: A 14-year girl was admitted with akinesia and difficulty walking due to gait instability after two oral doses of compound diphenoxylate (lomotil). When she was 18-month old, drowsiness and inability to walk were observed after taking lomotil, the symptoms were relieved by taking B vitamins for treatment. The laboratory tests showed the increased blood branched chain amino acid levels; gene detection indicated that the child had compound heterozygous variations of c.745G>A(p.G249S) and c.485-1G>C in the BCKDHA gene. The girl was finally diagnosed as maple syrup urine disease. The domestic and foreign literature was searched, and 11 child cases of maple syrup urine disease with onset of unsteadiness and ataxia were reported, none of whom was associated with oral administration of compound diphenoxylate.