Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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November 24, 2016
Glutaric Acidemia (Type 1)
- Background:
- Autosomal, recessive, inherited metabolic disease caused by deficiency of the mitochondrial enzyme glutaryl-coenzyme A dehydrogenase (GCDH)
- Accumulation of glutaric acid, which impedes operculization during the third trimester of fetal development
- Clinical Presentation:
- Generally manifests during 1st year of life with episodic crises (triggered by infection, immunization, surgery), leading to acute striatal necrosis
- Seizures and mental retardation are also common.
- Key Diagnostic Features:
- Macrocrania, bilateral widened sylvian fissures, and bilaterally symmetric basal ganglia lesions with no enhancement
- In acute crisis, commonly see increased T2/FLAIR signal with associated restricted diffusion in the striatum and globus pallidus, but occasionally, pallidal involvement predominates
- Striatal atrophy occurs in the chronic phase.
- Differential Diagnoses:
- Hypoxic-ischemic encephalopathy
- Leigh disease
- Kernicterus
- Menkes disease
- Benign expansion of extra-axial spaces
- Treatment:
- Slowly progressive disease with episodes of acute deterioration; if untreated, death is usually in the first decade.
- Treatment in the acute stage takes the form of prevention and correction of the catabolic state. In the chronic stage, a low-protein diet with carnitine and riboflavin supplements should be given.