{"id":116,"title":"Pregnancy in a Woman with PGM1-CDG: Longitudinal Metabolic Follow-up During a Lactose-Supported Diet","title_zh":"PGM1-CDG 女性妊娠期经乳糖饮食维持半乳糖摄入的纵向代谢随访","url":"https://pubmed.ncbi.nlm.nih.gov/42969211","doi":"10.4274/jcrpe.galenos.2026.2026-7-12","pmid":"42969211","journal":"J Clin Res Pediatr Endocrinol","kind":"paper","lang":"en","published_at":"2026-11-02T00:00:00+00:00","fetched_at":"2026-11-08T03:43:53+00:00","authors":["Akyüzlüer Güneş MS","Koç Yekedüz M","Sürücü Kara İ","Köse E","Çetinkaya S","Yolcu F","Yürür Kutlay N","Eminoğlu FT"],"primary_topic":"art-clinical","topics":[{"slug":"art-clinical","score":1.0,"hits":["assisted reproductive"]}],"topic_score":1.0,"preference_score":0.0,"preference_labels":[],"llm_score":73.0,"final_score":73.0,"score_dims":{"novelty":72,"rigor":52,"impact":58,"relevance":62,"translation":68},"recommend_reason":"极罕见可治疗性 CDG 的妊娠管理个案，首次详细描述以乳糖饮食替代药物性半乳糖的孕期纵向代谢随访，对罕见遗传代谢病的孕前咨询与 ART 妊娠管理有直接参考价值；但为单例报告，证据等级有限。","keywords":["PGM1-CDG","先天性糖基化障碍","妊娠管理","半乳糖饮食","辅助生殖技术","纵向代谢随访"],"selected":1,"story_id":205,"llm_provider":"deepseek","llm_model":"deepseek-flash","llm_effort":"low","source_key":"pubmed-art","source_name":"PubMed · 辅助生殖临床","source_tier":1,"mention_count":1,"has_interpretation":false,"journal_key":null,"journal_tier":"unknown","journal_if":null,"is_mock":false,"summary_zh":"本文报告一例经基因确诊的磷酸葡萄糖变位酶-1 缺乏症（PGM1-CDG）女性患者，青春期诊断，表现多系统受累，携带 PGM1 c.1508G>A 纯合变异。长期药物性 D-半乳糖补充使生化指标改善、心脏受累稳定。25 岁时经辅助生殖技术妊娠；因孕期药物性 D-半乳糖安全性数据有限，改为经乳糖饮食维持半乳糖摄入（约 0.5 g/kg/天）。孕期肝功能、凝血指标与心脏状态稳定，肌酸激酶未恶化，妊娠期糖尿病仅经饮食控制；无血栓、肝脏或心脏并发症，38 周择期剖宫产分娩健康女婴，新生儿代谢评估正常，为母源变异杂合携带者。","summary":"Phosphoglucomutase-1 deficiency (PGM1-CDG) is an ultra-rare, treatable congenital disorder of glycosylation characterized by multisystem involvement. Although galactose supplementation improves biochemical and clinical manifestations, data on pregnancy management and metabolic follow-up in affected women remain extremely limited. We report a woman with genetically confirmed PGM1-CDG who achieved a successful pregnancy with detailed longitudinal metabolic monitoring and maintenance of galactose intake through a lactose-supported diet. The patient was diagnosed during adolescence with a multisystem phenotype including short stature, craniofacial dysmorphism, hepatic involvement, elevated creatine kinase, reduced antithrombin III and left ventricular hypertrophy. She harbored a homozygous PGM1 c.1508G>A (p.Arg503Gln) variant. Long-term pharmaceutical D-galactose supplementation was associated with biochemical improvement, while cardiac involvement remained clinically stable. At 25 years of age, pregnancy was achieved through assisted reproductive technology with her spouse, who was heterozygous for a different PGM1 variant classified as a variant of uncertain significance (VUS). Given the limited safety data on pharmaceutical D-galactose use during pregnancy and uncertainty regarding potential fetal effects, galactose intake was maintained through a lactose-supported diet (estimated galactose intake of approximately 0.5 g/kg/day). Liver enzymes, coagulation parameters and cardiac status remained stable and creatine kinase levels did not worsen. Gestational diabetes was successfully managed with dietary modification alone. No thrombotic, hepatic or cardiac complications occurred. A healthy female infant was delivered by elective cesarean section at 38 weeks. The newborn had a normal metabolic evaluation and was a heterozygous carrier of the maternal PGM1 variant. This case provides detailed longitudinal data on pregnancy in PGM1-CDG and describes the maintenance of dietary galactose intake derived from lactose during a pregnancy with favorable maternal and neonatal outcomes.","interpretation_basis":null,"fulltext_status":null,"interpretation":null,"fulltext":{"available":false,"status":null,"reason":"尚未抓取全文（未入选、分数未达阈值，或还没跑 fulltext 步骤）","pmcid":null,"license":null,"chars":0,"source":null,"fetched_at":null}}