GTR Home > Conditions/Phenotypes > Multiple acyl-CoA dehydrogenase deficiency

Summary

Excerpted from the GeneReview: Multiple Acyl-CoA Dehydrogenase Deficiency
Multiple acyl-CoA dehydrogenase deficiency (MADD) represents a clinical spectrum in which presentations can be divided into type I (neonatal onset with congenital anomalies), type II (neonatal onset without congenital anomalies), and type III (late onset). Individuals with type I or II MADD typically become symptomatic in the neonatal period with severe metabolic acidosis, which may be accompanied by profound hypoglycemia and hyperammonemia. Many affected individuals die in the newborn period despite metabolic treatment. In those who survive the neonatal period, recurrent metabolic decompensation resembling Reye syndrome and the development of hypertrophic cardiomyopathy can occur. Congenital anomalies may include dysmorphic facial features, large cystic kidneys, hypospadias and chordee in males, and neuronal migration defects (heterotopias) on brain MRI. Individuals with type III MADD, the most common presentation, can present from infancy to adulthood. The most common symptoms are muscle weakness, exercise intolerance, and/or muscle pain, although metabolic decompensation with episodes of rhabdomyolysis can also be seen. Rarely, individuals with late-onset MADD (type III) may develop severe sensory neuropathy in addition to proximal myopathy.

Available tests

176 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: EMA, GA2, MADD, ETFA
    Summary: electron transfer flavoprotein subunit alpha

  • Also known as: FP585, MADD, ETFB
    Summary: electron transfer flavoprotein subunit beta

  • Also known as: ETFQO, MADD, ETFDH
    Summary: electron transfer flavoprotein dehydrogenase

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