A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene

We described here a case with riboflavin responsive LSM and MADD resulting fromFLAD1 gene variants (c.1588  C >  T p.Arg530Cys and c.1589 G >  C p.Arg530Pro,FLAD1-RRMADD). And we compared our patient together with 9FLAD1-RRMADD cases from literature to 106ETFDH-RRMADD cases in our neuromuscular center on clinical history, laboratory investigations and pathological features. Furthermore, the transcriptomics study onFLAD1-RRMADD andETFDH-RRMADD were carried out. On muscle pathology, bothFLAD1-RRMADD andETFDH-RRMADD were proved with lipid storage myopathy in which atypical ragged red fibers were more frequent inETFDH-RRMADD, while fibers with faint COX staining were more common inFLAD1-RRMADD. Molecular study revealed that the expression ofGDF15 gene in muscle and GDF15 protein in both serum and muscle was significantly increased inFLAD1-RRMADD andETFDH-RRMADD groups. Our data revealed thatFLAD1-RRMADD (p.Arg530) has similar clinical, biochemical, and fatty acid metabolism changes toETFDH-RRMADD except for muscle pathological features.
Source: Journal of Human Genetics - Category: Genetics & Stem Cells Source Type: research