Honke K, Hasui M, Takano N
Department of Pediatrics, National Sanatorium Io Hospital, Ishikawa.
No To Hattatsu. 1997 Jan;29(1):13-8.
It has been reported that serum levels of ketone bodies often elevate in patients with Duchenne muscular dystrophy (DMD). The cause of this abnormal metabolism, however, has not been elucidated. In this study, serum levels of ketone bodies were measured in the early morning in patients with DMD, congenital muscular dystrophy and cerebral palsy. Serum free fatty acids (FFA), glucose, and thickness of subcutaneous fat were also measured. Ketone bodies elevated in most DMD patients, but not elevated in patients with the other disorders. Hyperketonemia in the DMD patients was accompanied by elevation of the FFA level, but no correlation was seen between hyperketonemia and the creatine kinase level or the severity of muscle involvement. No differences were found between DMD patients and others in the levels of FFA, glucose and thickness of subcutaneous fat. These results indicate that DMD patients are more prone to ketosis than the others. The effect of biotin administration (2 mg/day) on hyperketonemia also was investigated in 11 patients with DMD. The levels of total ketone bodies decreased by biotin administration for 2 weeks. These data suggest that the utilization of FFA and ketone bodies may be impaired in DMD patients. Biotin treatment will be useful for improving the abnormal metabolism of ketone bodies in DMD patients.
据报道，杜氏肌营养不良症（DMD）患者的血清酮体水平常常升高。然而，这种异常代谢的原因尚未阐明。在本研究中，对DMD、先天性肌营养不良症和脑瘫患者清晨的血清酮体水平进行了测量。还测量了血清游离脂肪酸（FFA）、葡萄糖以及皮下脂肪厚度。大多数DMD患者的酮体升高，但其他疾病患者未升高。DMD患者的高酮血症伴有FFA水平升高，但高酮血症与肌酸激酶水平或肌肉受累严重程度之间未发现相关性。DMD患者与其他患者在FFA、葡萄糖水平和皮下脂肪厚度方面未发现差异。这些结果表明，DMD患者比其他患者更容易发生酮症。还对11例DMD患者研究了生物素给药（2毫克/天）对高酮血症的影响。生物素给药2周后，总酮体水平下降。这些数据表明，DMD患者对FFA和酮体的利用可能受损。生物素治疗将有助于改善DMD患者酮体的异常代谢。
