Inherent lipid metabolic dysfunction in glycogen storage disease IIIa.

@article{Li2014InherentLM,
  title={Inherent lipid metabolic dysfunction in glycogen storage disease IIIa.},
  author={Xin-hua Li and Qi-ming Gong and Yun Ling and Chong Huang and De-Min Yu and Lei-Lei Gu and Xiang-Wei Liao and Dong-hua Zhang and Xi-qi Hu and Yue Han and Xiao-fei Kong and Xin-Xin Zhang},
  journal={Biochemical and biophysical research communications},
  year={2014},
  volume={455 1-2},
  pages={90-7}
}
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… CONTINUE READING