Inherent lipid metabolic dysfunction in glycogen storage disease IIIa

Xin Hua Li, Qi Ming Gong, Yun Ling, Chong Huang, De Min Yu, Lei Lei Gu, Xiang Wei Liao, Dong Hua Zhang, Xi Qi Hu, Yue Han, Xiao Fei Kong, Xin Xin Zhang

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


We studied two patients from a nonconsanguineous family with life-long abnormal liver function, hepatomegaly and abnormal fatty acid profiles. Abnormal liver function, hypoglycemia and muscle weakness are observed in various genetic diseases, including medium-chain acyl-CoA dehydrogenase (MCAD) deficiency and glycogen storage diseases. The proband showed increased free fatty acids, mainly C8 and C10, resembling fatty acid oxidation disorder. However, no mutation was found in ACADM and ACADL gene. Sequencing of theamylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL) gene showed that both patients were compound heterozygotes for c.118C > T (p.Gln40X) and c.753-756 del CAGA (p.Asp251Glufsx29), whereas their parents were each heterozygous for one of these mutations. The AGL protein was undetectable in EBV-B cells from the two patients. Transcriptome analysis demonstrated a significant different pattern of gene expression in both of patients' cells, including genes involving in the PPAR signaling pathway, fatty acid biosynthesis, lipid synthesis and visceral fat deposition and metabolic syndrome. This unique gene expression pattern is probably due to the absence of AGL, which potentially accounts for the observed clinical phenotypes of hyperlipidemia and hepatocyte steatosis in glycogen storage disease type IIIa.

Original languageEnglish (US)
Pages (from-to)90-97
Number of pages8
JournalBiochemical and Biophysical Research Communications
Issue number1-2
StatePublished - Dec 5 2014
Externally publishedYes


  • AGL
  • Glycogen debranching enzyme
  • Glycogen storage disease type IIIa
  • MCAD

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology


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