关键词: 多酰基辅酶A脱氢酶缺乏；脊髓损伤；高胆固醇血症Ⅱ型；腹痛；受体, LDL；电子转运黄素蛋白脱氢酶

Abstract: Abstract: Glutaric aciduria type Ⅱ is an autosomal recessive disease that affects the metabolism of fatty acids, amino acids and choline, and is an important molecular cause of lipid deposition disease. Children with this disease are rare, and clinicians lack awareness, easy to misdiagnose or miss diagnosis. Late-onset glutaruria type Ⅱ with abdominal pain and spinal cord injury is rarer. This case report describes a retrospective analysis of a child with late-onset glutaric aciduria type Ⅱ and familial hypercholesterolemia with abdominal pain and spinal cord injury. Blood lipid, urine organic acid test and genetic testing early are of great significance for the diagnosis and treatment of children and improve their quality of life. 

Key words: multiple acyl coenzyme A dehydrogenase deficiency, spinal cord injuries, hyperlipoproteinemia type Ⅱ, abdominal pain, receptors, LDL, electron transfer flavoprotein dehydrogenase