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TL;DR
The patient was partially responsive to riboflavin treatment, consistent with prior reports that exon-2 mutations confer greater severity and reduced riboflavin responsiveness.
Annals of Medicine and Surgery · 3 authors, 3 centres
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The patient was partially responsive to riboflavin treatment, consistent with prior reports that exon-2 mutations confer greater severity and reduced riboflavin responsiveness.
A 5-year-old boy from a consanguineous family in Iran presented at age 3 with difficulty climbing stairs and rising from a chair (Gower's sign). Muscle biopsy showed bimodal fiber size with atrophic fibers, rare necrosis/regeneration, and adipose tissue replacement, though Oil Red O staining did not reveal lipid excess. He showed only partial biochemical response to riboflavin, consistent with the observation that exon-2 mutations are more severe and less responsive to treatment. The report adds to the clinical profiling of FAD synthase deficiency and supports routine FLAD1 testing in individuals with MADD.