关键词: 糖原累积症Ia型, 骨骼畸形, G6PC基因

Abstract: Objective To analyze the clinical features and treatment of a patient with glycogen storage disease type Ia (GSD Ia). Methods Medical history, physical examination and laboratory results of the patient were collected in detail. DNAs were extracted from peripheral blood of the patient and his parents. The first exon to the fifth exon of G6PC (glucose-6-phosphatase catalytic subunit) gene were analyzed by PCR sequencing. Results The patient was a 23-year-old male Chinese with typical symptoms of hypoglycemia, hepatomegaly, hyperlactacidemia, hyperuricemia and hyperlipidemia, at the same time he had severe skeletal deformity. Homozygosis c.648G>T(p.Leu216Leu)splice mutation in the fifth exon was detected in G6PC gene in this patient, which was separately carried in his mother and father respectively. This is a common genotype, but severe skeletal deformity is an uncommon phenotype. Conclusions GSD Ia can cause sever skeletal deformity. Early diagnosis and treatment can improve patients’ living quality and decrease organic damage.

Key words: glycogen storage disease type Ia, skeletal deformity, G6PC