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HGEM, S

  • GTR Test IDHelp: GTR000597437.2
  • Last updated: 2023-05-30
  • Test version history

Clinical testHelp for Multiple acyl-CoA dehydrogenase deficiency
Offered by Mayo Clinic Laboratories

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Imported from GeneReviews

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.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Acidosis
  • Developmental cataract
  • Gliosis
  • Glycosuria
  • Hepatomegaly
  • Hypoglycemia
  • Hypoglycemic coma
  • Jaundice
  • Polycystic kidney dysplasia
  • Hypotonia
  • Nausea
  • Vomiting
  • Muscle weakness
  • High forehead
  • Pulmonary hypoplasia
  • Glutaric aciduria
  • Telecanthus
  • Abnormal facial shape
  • Respiratory distress
  • Hepatic periportal necrosis
  • Abnormality of the genital system
  • Abnormal pinna morphology
  • Depressed nasal bridge
  • Proximal tubulopathy
  • Generalized aminoaciduria
  • Ethylmalonic aciduria
  • Wide anterior fontanel
  • Renal cortical cysts
  • Macrocephaly
  • Hepatic steatosis
  • Electron transfer flavoprotein-ubiquinone oxidoreductase defect
  • Elevated circulating glutaric acid concentration
  • Pachygyria
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Inheritance pattern

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Autosomal recessive inheritance

Conditions tested

Target population

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Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using serum specimens.   Evaluation of patients with abnormal newborn screens showing elevations of C4- acylcarnitine to aid in the differential diagnosis of short chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies.   Diagnosis of glutaric acidemia type 1.   Aiding in diagnosis of glutaric acidemia type 2.

Citations

Clinical validity

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Not provided

Clinical utility

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Establish or confirm diagnosis

Citations
  • Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis. - PubMed ID: 32981931

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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