Dhammi Navjot, Essakow Jenna, Gallagher Renata, Gaw Cynthia
Department of Pediatrics, UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
SAGE Open Med Case Rep. 2022 Jul 12;10:2050313X221111274. doi: 10.1177/2050313X221111274. eCollection 2022.
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare autosomal recessive disorder that results in severe ketoacidosis due to a defect in ketone utilization. We describe a case of a 12-month-old infant presenting with severe metabolic acidosis, ketosis, and hyperammonemia, a combination of symptoms suggestive of an inborn error of metabolism. Genetic testing found our patient had a homozygous variant in the gene, c.1543A>G (p.Met515Val). This was the first identified case of SCOT deficiency at our institution. We share our acute management strategies for initial stabilization in the intensive care unit, as well as our approach to preventing morning ketosis after discharge using uncooked cornstarch.
琥珀酰辅酶A：3-酮酸辅酶A转移酶（SCOT）缺乏症是一种罕见的常染色体隐性疾病，由于酮体利用缺陷导致严重酮症酸中毒。我们描述了一例12个月大的婴儿，表现为严重代谢性酸中毒、酮症和高氨血症，这些症状组合提示存在先天性代谢缺陷。基因检测发现我们的患者在该基因中有一个纯合变异，即c.1543A>G（p.Met515Val）。这是我们机构首次确诊的SCOT缺乏症病例。我们分享了在重症监护病房进行初始稳定治疗的急性管理策略，以及出院后使用生玉米淀粉预防早晨酮症的方法。
