Zhonghua yi xue yi chuan xue za zhi, 2014-08, Vol.31 (4), p.428
2014
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Details
- Autor(en) / Beteiligte
- Titel
- Mutation analysis for a family affected with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency
- Ist Teil von
- Zhonghua yi xue yi chuan xue za zhi, 2014-08, Vol.31 (4), p.428
- Ort / Verlag
- China
- Erscheinungsjahr
- 2014
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- To identify pathogenic mutation in a boy affected with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency (RR-MADD). The patient was initially diagnosed as primary carnitine deficiency (PCD) and has been treated with carnitine supplementation for 7 years. Clinical manifestations and characteristics of fibula muscle specimen were analyzed. Potential mutation in electron transfer flavoprotein dehydrogenase (ETFDH) gene (for the patient and his parents) and carnitine transfer protein gene (SLC22A5) (for the patient) was screened. Electronic microscopy of the muscle specimen has suggested lipid storage myopathy. Mutation analysis has found that the patient carried compound heterozygous mutations, c.250G>A and c.380T>C, in exon 3 of the ETFDH gene, whilst his father and mother were heterozygous for the c.380T>C and c.250G>A mutations, respectively. Screening of the SLC22A5 gene has yielded no clinically meaningful result. After the establishment of diagnosis of RR-MADD, the condition of the patient h
- Sprache
- Chinesisch
- Identifikatoren
- ISSN: 1003-9406DOI: 10.3760/cma.j.issn.1003-9406.2014.04.004Titel-ID: cdi_pubmed_primary_25119904
- Format
- –
- Schlagworte
- Adolescent, Adult, Base Sequence, Child, DNA Mutational Analysis, Electron-Transferring Flavoproteins - genetics, Electron-Transferring Flavoproteins - metabolism, Female, Humans, Iron-Sulfur Proteins - genetics, Iron-Sulfur Proteins - metabolism, Male, Molecular Sequence Data, Multiple Acyl Coenzyme A Dehydrogenase Deficiency - enzymology, Multiple Acyl Coenzyme A Dehydrogenase Deficiency - genetics, Multiple Acyl Coenzyme A Dehydrogenase Deficiency - metabolism, Muscle, Skeletal - metabolism, Organic Cation Transport Proteins - genetics, Organic Cation Transport Proteins - metabolism, Oxidoreductases Acting on CH-NH Group Donors - genetics, Oxidoreductases Acting on CH-NH Group Donors - metabolism, Riboflavin - metabolism, Solute Carrier Family 22 Member 5