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

Multiple acyl-CoA dehydrogenase deficiency

Synonyms
Ethylmalonic-adipicaciduria; GA 2; GA II; Glutaric acidemia type 2; Glutaric acidemia type II; Glutaric aciduria, type 2
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

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.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Pankaj Prasun
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Available tests

145 tests are in the database for this condition.

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Clinical tests (145 available)

Biochemical Genetics Tests

Molecular Genetics Tests

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

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C4 and C5 +/- Other Acylcarnitines, Glutaric Acidemia II (GA-II) (MADD), 2022
  • ACMG Algorithm,
    American College of Medical Genetics and Genomics, Algorithm, Glutaric Acidemia II (GA-II)/ MADD, Riboflavin Metabolism Disorder, Ethylmalonic Encephalopathy: C4 and C5 elevated +/- other elevated acylcarnitines (AC), 2022
  • ACMG ACT, 2021
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C8 with Lesser Elevations of C6 and C10 Acylcarnitine, Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency, 2021
  • ACMG Algorithm, 2021
    American College of Medical Genetics and Genomics, Algorithm, C8 Elevated + Lesser Elevations of C6 and C10, 2021

Molecular resources

Consumer resources

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