Sulaiman Raashda Ainuddin, Al-Nemer Maha, Khan Rubina, Almasned Munirah, Handoum Bedour S, Al-Hassnan Zuhair N
Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
JIMD Rep. 2018;38:41-44. doi: 10.1007/8904_2017_24. Epub 2017 May 10.
Patients with succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency and 3-hydroxy-3-methylglutaryl (HMG)-CoA lyase deficiency are at increased risk of developing metabolic acidosis and hypoglycemia during pregnancy, delivery, and postpartum period. This can be fatal if not treated appropriately. Pregnancy in such patients should be managed in a specialist center by a multidisciplinary team including metabolic physician, high-risk obstetrician, and metabolic dietician. We report two pregnancies in women with SCOT deficiency and HMG-CoA lyase deficiency, which were successfully managed at this tertiary care center. The patient with SCOT deficiency had recurrent ketoacidosis due to severe nausea and vomiting requiring several hospital admissions during pregnancy, while the patient with HMG-CoA lyase deficiency remained metabolically stable. Both patients, nevertheless, had normal delivery of live-born infants and had uneventful postpartum period.
患有琥珀酰辅酶A：3-氧代酸辅酶A转移酶（SCOT）缺乏症和3-羟基-3-甲基戊二酰（HMG）-辅酶A裂解酶缺乏症的患者在妊娠、分娩和产后期间发生代谢性酸中毒和低血糖的风险增加。如果治疗不当，这可能是致命的。此类患者的妊娠应由包括代谢内科医生、高危产科医生和代谢营养师在内的多学科团队在专科中心进行管理。我们报告了两名患有SCOT缺乏症和HMG-辅酶A裂解酶缺乏症的女性的妊娠情况，她们在这家三级医疗中心成功接受了管理。患有SCOT缺乏症的患者因严重恶心和呕吐反复发生酮症酸中毒，在怀孕期间需要多次住院，而患有HMG-辅酶A裂解酶缺乏症的患者代谢保持稳定。然而，两名患者均顺利分娩活产婴儿，产后情况良好。
