目的　探讨罕见遗传代谢病，先天性糖基化异常Ia型(CDG-Ia)的临床特点及诊疗。方法　回顾分析1例因脑 病及肝病被发现的CDG-Ia型婴儿的临床资料及基因检测结果，并复习相关文献。结果　男性患儿，生后3个月出现颜面、 躯干部皮疹，运动发育落后，营养不良，面颊部脂肪较丰满，四肢肌张力低下，双侧乳头凹陷。检查发现肝功能异常，轻度肾 功能损害；发育商低下。头颅磁共振检查提示双侧额、颞部脑沟增宽，小脑萎缩。尿有机酸、血氨基酸及酯酰肉碱谱、生物 素酶活性正常。基因测序显示患儿PMM2基因存在两处杂合突变点c.430T>C（p.F144L）及c.713G>C（p.R238P），确诊为 CDG-Ia。患儿父母健康，各携带一个致病突变。患儿曾有一兄，智力运动障碍， 8个月时死于肝肾功能损害、肾积水。结论　 CDG-Ia为常染色体隐性遗传病，对于不明原因的多脏器损害，特别是合并智能运动发育落后、斜视、乳头凹陷、小脑萎缩的 患儿应该考虑本病的可能，PMM2基因检测有助诊断。

Objective　To explore the clinical features, diagnosis, and treatment of congenital disorder of glycosylation type 1a (CDG-Ia), a rare inherited metabolic disease. Methods　The clinical data and the gene detection results of one case of CDG-Ia which was discovered because the case had encephalopathy and hepatopathy were retrospectively analyzed. The related literatures were reviewed. Results　Male infant suffered with face and trunk rash, motor development retardation, malnutrition, cheek fat plump, low limbs muscle tone, and bilateral crater nipple at 3 months old. Abnormal liver function and mild renal impairment were found after examination. The development quotient was low. Head MRI showed that bilateral frontal and temporal sulcus widening, and cerebellar atrophy. Urinary organic acids, amino acids, carnitine, and biotin activities were normal. Gene sequencing revealed that there were two heterozygous mutations, c.430T>C (p.F144L) and c.713G>C (p.R238P), in the PMM2 gene. The diagnosis of CDG-Ia was confirmed. Both of the infant’s parents were healthy, and each of them carries a pathogenic mutation. The infant had an elder brother who had mental disorder and died for liver and kidney function damage and hydronephrosis at 8 months old. Conclusion　CDG-Ia is an autosomal recessive disease. For infants with unexplained multiple organ damage, especially combined with intelligent and motor development retardations, strabismus, nipple retraction, and cerebellar atrophy, the possibility of CDG-Ia should be considered. Gene detection of PMM2 can help the diagnosis.