Riboflavin (B2) related syndromes

Riboflavin

• Riboflavin Deficiency: ? Burning feet syndrome
• Riboflavin Sensitive myopathies
• Multiple acylñCoA dehydrogenase deficiency (Glutaricaciduria IIA)
• ? Myopathic carnitine deficiency
• ? MELAS: With Idebenone
• Mitochondrial: tRNA Leu mutation (T3250C)
• Genetics
• Heteroplasmic
• T3250C Mutation may also present with
• Fatigue syndrome
• Cardiomyopathy
• Onset: 1 year
• Clinical
• Weakness: Proximal & Neck extensor
• Lumbar lordosis
• Normal EOM
• Family history: Sibs with early death
• Biochemistry: Complex I deficiency