Multiple acyl-CoA dehydrogenase deficiency (MADD): clinical features
Evidence-based neurology checklist on multiple acyl-coa dehydrogenase deficiency (madd): clinical features: Genetics MADD is caused by mutations in the electronic transfer flavoprotein (ETF) gene ETFDH causes riboflavin-responsive MADD (RR-MADD) The transmission is autosomal recessive Pathogenesis…
Genetics
- MADD is caused by mutations in the electronic transfer flavoprotein (ETF) gene
- ETFDH causes riboflavin-responsive MADD (RR-MADD)
- The transmission is autosomal recessive
Pathogenesis
Types
Muscle features
Systemic features
Features in crises
Other features
Differential diagnosis
Synonym
References
- Olsen RK, Olpin SE, Andresen BS, et al. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 2007; 130:2045-2054.
- Liang WC, Nishino I. Lipid storage myopathy. Curr Neurol Neurosci Rep 2011; 11:97-103.
- Mumtaz HA, Gupta V, Singh P, Marwaha RK, Khandelwal N. MR imaging findings of glutaric aciduria type II. Singapore Med J 2010; 51:e69-e71.
- Pollard LM, Williams NR, Espinoza L, et al. Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency. J Child Neurol 2010; 25:954-960.
- van der Westhuizen FH, Smuts I, Honey E, et al. A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency. J Neurol Sci 2018; 384:121-125.
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