Molecular and Genetic Medicine

Cheng Y

Publications

• Case Report
  Clinical, Genetic and Magnetic Resonance Findings in an Infant Affected by Propionic Acidemia
  Author(s): Cheng Y, Yu D, Ning g, Qu H, Zhao F and Guo YCheng Y, Yu D, Ning g, Qu H, Zhao F and Guo Y
  
  Purpose: Report an infant patient of propionic acidemia with two mutations in the PCCB gene identified by genetic diagnosis. Method: The patient received gas chromatograph-mass spectrometry and liquid chromatography-tandem mass spectrometry examination, electroencephalogram (EEG), MRI and genetic tests. He was diagnosed as propionic academia. Results: The boy was admitted in hospital at 8 months of age because of dyspnea, depression, seizures. The EEG was abnormal. MRI showed abnormal signal in bilateral basal ganglia. The gas chromatograph-mass spectrometry and liquid chromatography-tandem mass spectrometry showed glycine, 3-hydroxypropionate, tiglyglycine, methylcitric acid, propionyl carnitine increased. The genetic tests demonstrated that the patient carried the mutations c.337C>T and c.1127 G>T in the PC.. Read More»
  

  Abstract PDF