alexa Abstract | Clinical, Genetic and Magnetic Resonance Findings in an Infant Affected by Propionic Acidemia
ISSN: 1747-0862

Journal of Molecular and Genetic Medicine
Open Access

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Case Report Open Access

Abstract

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 PCCB gene. The mutations were inherited from his parents individually.

Conclusion: The patient carried two compound heterozygous mutations in PCCB gene which resulted in propionic academia. The metabolomics screen and brain MRI also played significant roles in the diagnosis of propionic acidemia.

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Author(s): Cheng Y, Yu D, Ning G, Qu H, Zhao F and Guo Y

Keywords

Propionic academia, Gene mutation, PCCB, MRI, Blood metabolomics screen, Organic academia, Bioactive Compound, Cellular Medicine, Epigenomics, Gene Therapy, Genetic Engineering in Medicine, Genomic Medicine, Human Molecular Genetics, Medicinal Biotechnology, Metabolomics, Molecular Basis of Cancer, Molecular Basis of Obesity, Molecular Diagnosis, Molecular Genetic Test, Molecular Medicine, Nuclear Medicine, Pathology and Molecular Medicine, Personalized Medicine

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