Pregnancy and delivery in a patient with methylmalonic aciduria cblC type and homocystinuria: a case report
10.3760/cma.j.cn113903-20250409-00181
- VernacularTitle:甲基丙二酸血症cblC型合并高同型半胱氨酸血症患者妊娠分娩1例
- Author:
Ran CUI
1
;
Huixia YANG
1
Author Information
1. 北京大学第一医院妇产生殖医学中心，北京 100034
- Publication Type:Journal Article
- Keywords:
Methylmalonic aciduria, cblC type;
Hyperhomocystei-nemia;
Pregnancy
- From:
Chinese Journal of Perinatal Medicine
2025;28(10):896-898
- CountryChina
- Language:Chinese
-
Abstract:
This report described a pregnancy and delivery in a 28-year-old patient with methylmalonic aciduria (MMA) cblC type. The diagnosis was established during the perioperative period of thrombectomy for cerebral venous sinus thrombosis, when hyperhomocystei-nemia was detected. Further investigation confirmed MMA with MMACHC gene variants c.80A>G (paternal) and c.609G>A (maternal), consistent with the cblC subtype. During pregnancy, the patient continued supplementation with hydroxocobalamin, levocarnitine, and betaine while maintaining a normal diet without protein restriction. Both the metabolic disease and fetal growth remained well-controlled. Unexplained vomiting occurred at 32?1 weeks of gestation, leading to cesarean delivery at 33?1 weeks. Postoperative recovery was uneventful with resolution of vomiting. The newborn was discharged after four weeks of neonatal care and demonstrated normal growth during follow-up. As adult MMA patients may pursue pregnancy, and evidence-based guidelines for management during gestation are limited, further case reports are needed to accumulate experience.
