Phosphoglucomutase 1 deficiency is a congenital disorder of glycosylation (CDG) with multiorgan involvement affecting carbohydrate metabolism, N-glycosylation and energy production. The metabolic management consists of dietary D-galactose supplementation that ameliorates hypoglycemia, hepatic dysfunction, endocrine anomalies and growth delay. Previous studies suggest that D-galactose administration in juvenile patients leads to more significant and long-lasting effects, stressing the urge of neonatal diagnosis (0–6 months of age).

Here, we detail the early clinical presentation of PGM1-CDG in eleven infantile patients, and applied the modified Beutler test for screening of PGM1-CDG in neonatal dried blood spots (DBSs).

All eleven infants presented episodic hypoglycemia and elevated transaminases, along with cleft palate and growth delay (10/11), muscle involvement (8/11), neurologic involvement (5/11), cardiac defects (2/11). Standard dietary measures for suspected lactose intolerance in four patients prior to diagnosis led to worsening of hypoglycemia, hepatic failure and recurrent diarrhea, which resolved upon D-galactose supplementation. To investigate possible differences in early vs. late clinical presentation, we performed the first systematic literature review for PGM1-CDG, which highlighted respiratory and gastrointestinal symptoms as significantly more diagnosed in neonatal age.

The modified Butler-test successfully identified PGM1-CDG in DBSs from seven patients, including for the first time Guthrie cards from newborn screening, confirming the possibility of future inclusion of PGM1-CDG in neonatal screening programs.

In conclusion, severe infantile morbidity of PGM1-CDG due to delayed diagnosis could be prevented by raising awareness on its early presentation and by inclusion in newborn screening programs, enabling early treatments and galactose-based metabolic management.

磷酸葡萄糖突变酶1缺乏症是先天性糖基化疾病（CDG），涉及多器官，影响碳水化合物的代谢，N-糖基化和能量产生。代谢管理包括饮食中的D-半乳糖补充剂，可改善低血糖症，肝功能障碍，内分泌异常和生长延迟。先前的研究表明，在青少年患者中使用D-半乳糖可产生更显着和更持久的效果，从而强调了新生儿诊断的迫切性（0-6个月大）。

在这里，我们详细介绍了11例婴儿患者中PGM1-CDG的早期临床表现，并应用改良的Beutler检验筛查新生儿干血斑（DBS）中的PGM1-CDG。

所有11例婴儿均表现为发作性低血糖和转氨酶升高，以及pa裂和生长延迟（10/11），肌肉受累（8/11），神经系统受累（5/11），心脏缺陷（2/11）。在诊断之前，有四名患者的标准饮食措施怀疑可疑的乳糖不耐症，导致低血糖，肝功能衰竭和反复腹泻恶化，补充D-半乳糖后可解决。为了研究早期和晚期临床表现的可能差异，我们对PGM1-CDG进行了首次系统性文献综述，该文献强调呼吸道和胃肠道症状在新生儿年龄段被诊断得更多。

改良的Butler-test成功地从7名患者的DBS中鉴定出PGM1-CDG，其中包括首次从新生儿筛查中获得的Guthrie卡，从而证实了将来PGM1-CDG纳入新生儿筛查计划的可能性。

总之，可以通过提高人们对PGM1-CDG早期诊断的认识，并通过纳入新生儿筛查程序，进行早期治疗和基于半乳糖的代谢管理，来预防由于诊断延迟而导致的PGM1-CDG的严重婴儿并发症。