Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies
| Autor: | Ronald J.A. Wanders, Michelle Mereis, Izelle Smuts, Marli Dercksen, Maryke Schoonen, Francois H. van der Westhuizen |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Respiratory chain Flavoprotein Glutaric aciduria type II Biology Biochemistry 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Multiple acyl-CoA dehydrogenase deficiency Oxidoreductase Animals Humans Riboflavin homeostasis Multiple Acyl-CoA Dehydrogenase Deficiency Multiple Acyl Coenzyme A Dehydrogenase Deficiency Flavin adenine dinucleotide Genetics chemistry.chemical_classification FAD FAD transport Cell Biology ETF Phenotype 030104 developmental biology chemistry ETFDH Riboflavin transport 030220 oncology & carcinogenesis Mutation biology.protein Flavin-Adenine Dinucleotide |
| Zdroj: | The international journal of biochemistrycell biology. 132 |
| ISSN: | 1878-5875 |
| Popis: | Multiple acyl-coenzyme A dehydrogenase deficiency (MADD), or glutaric aciduria type II (GAII), is a group of clinically heterogeneous disorders caused by mutations in electron transfer flavoprotein (ETF) and ETF-ubiquinone oxidoreductase (ETFQO) - the two enzymes responsible for the re-oxidation of enzyme-bound flavin adenine dinucleotide (FADH2) via electron transfer to the respiratory chain at the level of coenzyme Q10. Over the past decade, an increasing body of evidence has further coupled mutations in FAD metabolism (including intercellular riboflavin transport, FAD biosynthesis and FAD transport) to MADD-like phenotypes. In this review we provide a detailed description of the overarching and specific metabolic pathways involved in MADD. We examine the eight associated genes (ETFA, ETFB, ETFDH, FLAD1, SLC25A32 and SLC52A1-3) and clinical phenotypes, and report ∼436 causative mutations following a systematic literature review. Finally, we focus attention on the value and shortcomings of current diagnostic approaches, as well as current and future therapeutic options for MADD and its phenotypic disorders. |
| Databáze: | OpenAIRE |
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