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

Journal of Molecular and Genetic Medicine
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Case Report

Clinical, Genetic and Magnetic Resonance Findings in an Infant Affected by Propionic Acidemia

Cheng Y1, Yu D2*, Ning g1, Qu H1, Zhao F3 and Guo Y4

1Department of Radiology, West China Second University Hospital, Sichuan University, Key Laboratory of Obstetric, Gynecologic, Pediatric Diseases and Birth Defects of Ministry of Education, P.R. China

2Department of Pediatrics, West China Second University Hospital, Sichuan University; Key Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Ren Min South Road 3rd Section 20#, Chengdu, Sichuan-610041, P.R. China

3Department of Intervention, West China Second University Hospital, Sichuan University, P.R. China

4Department of Molecular Imaging Lab, West China Second University Hospital, Sichuan University, P.R. China

*Corresponding Author:
Dr. Dan Yu
Department of Pediatrics, West China Second University Hospital
Sichuan University, Key Laboratory of Obstetric, Gynecologic
Pediatric Diseases and Birth Defects of Ministry of Education
Ren Min South Road 3rd Section 20#, Chengdu, Sichuan-610041, P.R. China
Tel: 862885422012
E-mail: [email protected]

Received Date: May 31, 2017; Accepted Date: June 16, 2017; Published Date: June 20, 2017

Citation: Cheng Y, Yu D, Ning G, Qu H, Zhao F, et al. (2017) Clinical, Genetic and Magnetic Resonance Findings in an Infant Affected by Propionic Acidemia. J Mol Genet Med 11:273 doi: 10.4172/1747-0862.1000273

Copyright: © 2017 Cheng Y, et al . This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited

 

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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