关键词: 　先天性糖基化障碍；　MPI基因；　肝脏肿大；　慢性腹泻

Abstract: Objective　To investigate the clinical manifestations and gene mutation characteristics for congenital disorders of glycosylation caused by MPI gene mutation. Method　One case with liver enlargement was diagnosed as congenital disturbance of glycosylation (CDG). We analyzed the clinical data and laboratory examination result, and the gene mutations identified by Sanger sequencing. Result　The patient was a girl，the main clinical features are hepatomegaly, recurrent respiratory infection, chronic diarrhea that started from 1 year old. Physical examination showed that the liver is 4 cm and the spleen is 1 cm under the ribs. The abdominal MRI results were hepatomegaly with diffuse lesions. Genetic analysis showed that the patient carried compound heterozygous mutations of c.391G>A(p.Asp131Asn) and c.455G>A(p.Arg152G) in MPI gene (NM_002435.2), which were inherited from father and mother, respectively. Conclusion　CDG is a metabolic disease caused by a group of autosomal recessive glycoprotein synthesis defects. MPI gene defect mainly manifested as hepatomegaly, vomiting, diarrhea, lymphangiectasis, protein losing enteropathy, hypoglycemia, the suspected cases can get a definite diagnosis by gene detection.

Key words: congenital disorders of glycosylation;　MPI gene;　hepatomegaly;　chronic diarrhea