Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency
| Autor: | Yuping Ma, Chenyi Wang, Qian Li, Haihong Lv, Xia Xu |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Adult
Iron-Sulfur Proteins 0301 basic medicine Cancer Research Electron-Transferring Flavoproteins Prenatal diagnosis Biology medicine.disease_cause Polymorphism Single Nucleotide Biochemistry 03 medical and health sciences chemistry.chemical_compound Exon 0302 clinical medicine multiple acyl-CoA dehydrogenase deficiency Genetics medicine Humans DNA sequencing Age of Onset riboflavin Multiple Acyl Coenzyme A Dehydrogenase Deficiency Multiple Acyl-CoA Dehydrogenase Deficiency Molecular Biology Gene Oxidoreductases Acting on CH-NH Group Donors Mutation Muscle biopsy Fatty acid metabolism medicine.diagnostic_test Homozygote Exons Sequence Analysis DNA Articles Pedigree 030104 developmental biology Amino Acid Substitution ETFDH Oncology chemistry 030220 oncology & carcinogenesis Molecular Medicine Female point mutation Isoleucine |
| Zdroj: | Molecular Medicine Reports |
| ISSN: | 1791-3004 1791-2997 |
| Popis: | Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessive disorder of fatty acid metabolism caused by defects in electron transfer flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETFDH). These defects are mainly classified into the neonatal and late-onset types, based on their clinical manifestations. ETFDH gene mutations are generally considered to be associated with the late-onset type. The present study reported an adult woman with late-onset MADD accompanied with biochemical and muscle biopsy findings indicating metabolic disorders. Gene sequencing analysis showed that the c.1514T>C homozygous mutation in the region of the 12th exon of the ETFDH gene, which led to the amino acid substitution p.I505T (isoleucine > threonine), resulting in defective ETFDH protein function. The results of family verification revealed that the homozygous mutation originated from her parents. The female patient was treated with a large dose of vitamin B2, L-carnitine and coenzyme Q10, and the symptoms were significantly relieved. The c.1514T>C mutation in the ETFDH gene, was considered as a novel pathogenic mutation that had not been previously reported. Therefore, it was hypothesized that this mutation was responsible for the clinical characteristics of the adult female patient. Overall, this novel mutation could expand the spectrum of the ETFDH gene mutation and provide the basis for the etiological and prenatal diagnosis of MADD. |
| Databáze: | OpenAIRE |
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