West China Second University Hospital,
Key Laboratory of Obstetric, Gynecologic Pediatric Diseases and Birth Defects of Ministry of Education, Ren Min South Road 3rd Section 20#, Chengdu, Sichuan-610041
IR Iran
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»
Molecular and Genetic Medicine received 3919 citations as per Google Scholar report
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