Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
Francesco Macchione1, Leonardo Salviati2,3, Andrea Bordugo4
1Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.
Journal of Neurology
|January 31, 2020
Summary
Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) can manifest as myopathy in older adults. Early diagnosis and treatment with riboflavin and L-carnitine can improve patient outcomes.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria type II, is an inherited metabolic disorder affecting fatty acid oxidation.
- It results from mutations in genes encoding electron transfer flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETFDH).
- MADD typically presents with severe neonatal onset or a milder, heterogeneous late-onset form.
Observation:
- Two elderly patients (in their seventies) presented with nonspecific myopathy.
- Genetic analysis revealed they were carriers of ETFDH gene mutations, indicating a late-onset manifestation of MADD.
- These individuals had not been diagnosed earlier, highlighting a potential diagnostic challenge.
Findings:
- Treatment with riboflavin (a cofactor for ETFDH) and L-carnitine led to significant clinical improvement in both patients.
- Biochemical profiles also showed positive changes following the intervention.
- This suggests that even in advanced age, MADD can be responsive to treatment.
Implications:
- MADD should be considered in the differential diagnosis of myopathies, even in elderly patients presenting with nonspecific symptoms.
- Early identification and management of MADD can improve quality of life and clinical outcomes.
- This case underscores the importance of considering metabolic disorders in adult-onset neuromuscular conditions.
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