Feed

Citrin deficiency is a rare autosomal recessive metabolic disorder caused by pathogenic variants in the SLC25A13 gene. Pregnancy in affected women is uncommon and presents unique challenges because conventional obstetric management may conflict with metabolic requirements. The coexistence of gestational diabetes mellitus (GDM) introduces additional complexity. A 25-year-old, gravida 2 para 0+1 woman with genetically confirmed citrin deficiency (homozygous SLC25A13 c.1763G>A mutation) was managed jointly by obstetric and inherited metabolic disease (IMD) teams. Her pregnancy was complicated by severe nausea and vomiting during the first trimester and subsequent GDM diagnosed using capillary glucose monitoring rather than an oral glucose tolerance test. Representative fasting glucose values were 6.3-6.8 mmol/L, with postprandial values up to 10.7 mmol/L. Specialist dietary modification and insulin therapy were instituted following multidisciplinary review. A personalised metabolic plan emphasised avoidance of prolonged fasting, restriction of excessive carbohydrate intake, maintenance of adequate energy intake, and avoidance of routine glucose-containing intravenous fluids. At 38+5 weeks' gestation, she underwent emergency caesarean section for failure to progress in labour under spinal anaesthesia. A healthy infant weighing 3074 g was delivered with Apgar scores of 9, 10 and 10 at 1, 5 and 10 minutes, respectively. Postoperative pain management was challenging because the specialist metabolic plan advised caution with paracetamol. Following inadequate analgesia with ibuprofen and dihydrocodeine, paracetamol was cautiously introduced at reduced doses and subsequently increased to 500 mg four times daily, with additional opioid analgesia as required. Daily plasma ammonia and liver function monitoring was undertaken during the five-day postoperative admission; ammonia values remained within the laboratory reference range, with no hyperammonaemia (range <10-32 µmol/L) or significant hepatic biochemical deterioration. This case highlights the complexity of managing pregnancy in women with citrin deficiency, particularly when complicated by GDM. It also demonstrates a practical approach to postoperative analgesia following caesarean delivery using cautious dose escalation and biochemical surveillance.