Department of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Acta Paediatr. 2021 Dec;110(12):3367-3375. doi: 10.1111/apa.16074. Epub 2021 Aug 30.
This study explored hypoglycaemia and metabolic crises, including hyperketosis, in patients with spinal muscular atrophy (SMA).
The study comprised four adolescents aged 15-17 and six adults aged 19-37 with SMA type II and eight adult controls aged 21-41, who were recruited by the Rigshospitalet, Denmark, from May 1st to October 30th 2017. We used stable isotope technique and indirect calorimetry to investigate fat and glucose metabolism during a 24-h fast or until hypoglycaemia occurred.
All patients with SMA II developed moderate to severe hyperketosis and 60% had symptoms of hypoglycaemia or blood glucose levels below 3 mmol/L. None of the controls developed hyperketosis or hypoglycaemia. Plasma bicarbonate decreased, in line with increased ketone bodies, indicating the start of metabolic acidosis in patients with SMA II. Increased fat production and utilisation were seen in healthy controls during the fasting period, but were absent in patients with SMA II, indicating blunted fat oxidation.
Low skeletal muscle mass was the best explanation for why patients with SMA II had an increased risk of hypoglycaemia, hyperketosis, metabolic acidosis and disturbed fat and glucose metabolism during fasting. These risks have implications for children facing surgery and those with severe illnesses.
本研究探讨了肌萎缩侧索硬化症（SMA）患者的低血糖和代谢危象，包括酮症酸中毒。
该研究纳入了 2017 年 5 月 1 日至 10 月 30 日期间，丹麦 Rigshospitalet 通过招募的 4 名 15-17 岁的青少年 SMA Ⅱ型患者和 6 名 19-37 岁的成年患者，以及 8 名 21-41 岁的成年对照组。我们使用稳定同位素技术和间接测热法来研究 24 小时禁食期间或直至发生低血糖时的脂肪和葡萄糖代谢情况。
所有 SMA Ⅱ型患者均出现中重度酮症酸中毒，60%的患者出现低血糖症状或血糖水平低于 3mmol/L。对照组均未出现酮症酸中毒或低血糖。血浆碳酸氢盐减少，与酮体增加一致，表明 SMA Ⅱ型患者开始出现代谢性酸中毒。健康对照组在禁食期间会增加脂肪生成和利用，但 SMA Ⅱ型患者却没有，表明脂肪氧化受损。
骨骼肌量低是 SMA Ⅱ型患者在禁食期间发生低血糖、酮症酸中毒、代谢性酸中毒以及脂肪和葡萄糖代谢紊乱风险增加的最佳解释。这些风险对面临手术的儿童和患有严重疾病的儿童具有重要意义。
