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Key Features

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  • Suspect in children with acute basal ganglia necrosis, macrocrania with subdural bleeds, and acute or progressive dystonia

  • Presymptomatic diagnosis by newborn screening and treatment reduces the incidence of acute encephalopathic crises

  • Caused by deficiency of glutaryl-CoA dehydrogenase

  • Patients have frontotemporal atrophy with enlarged sylvian fissures and macrocephaly

  • Sudden or chronic neuronal degeneration in the caudate and putamen causes an extrapyramidal movement disorder in childhood with dystonia and athetosis

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Clinical Findings

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  • May present with retinal hemorrhages and intracranial bleeding

  • Severely debilitated children often die in the first decade, but many patients have had only mild neurologic abnormalities

  • Symptoms almost always develop in the first 6 years of life, which represents the vulnerable period

  • The condition is autosomal recessive and prenatal diagnosis is possible

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Diagnosis

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  • Should be suspected in patients with acute or progressive dystonia in the first 6 years of life

  • MRI of the brain is highly suggestive

  • Diagnosis is supported by finding glutaric, 3-hydroxyglutaric acid, and glutarylcarnitine in urine or serum or by finding two mutations in the GCDH gene

  • Demonstration of deficiency of glutaryl-CoA dehydrogenase in fibroblasts can confirm the diagnosis

  • Prenatal diagnosis is by mutation analysis, enzyme assay, or quantitative metabolite analysis in amniotic fluid

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Treatment

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  • Strict catabolism prevention during any intercurrent illness is critically important

  • Supplementation with large amounts of carnitine and provision of a lysine and tryptophan restricted diet reduces the risk of degeneration of the basal ganglia

  • Early diagnosis does not prevent neurologic disease in all patients, but it clearly reduces the risk, warranting newborn screening

  • Neurologic symptoms, once present, do not resolve

  • Symptomatic treatment of severe dystonia is important for affected patients

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