Commentary

[摘要] MADD is a heterogeneous metabolic disorder that can induce limb-girdle weakness with onset ranging from infantile to adult age. It is caused by defects in fatty acid oxidation in the respiratory chain. Multiple genes can be involved including electron transfer flavoprotein (ETF), ETF dehydrogenase, and riboflavin transporter and metabolizing (riboflavin kinase and flavin adenine dinucleotide synthase) genes. The essential vitamin riboflavin is taken up from the blood by transporters and metabolized into …

[学科分类] 过敏症与临床免疫学