Late-Onset Glutaric Acidemia I

Glutaryl-Coenzyme A (CoA) dehydrogenase deficiency (GDD) is an enzyme deficiency affecting lysine and tryptophan degradation. It is clinically characterized by sudden onset of encephalopathic crisis which results in bilateral striatal damage and severe dystonic dyskinetic movement disorder. Crisis usually occurs between the ages 6 and 12 months and is triggered by febrile illness. During the preencephalopathic phase children may have mild developmental delay and muscular hypotonia. Often progressive macrocephaly is apparent from birth and MRI shows frontotemporal atrophy with significant subdural fluid spaces. Not all affected individuals may develop crisis. Some patients may remain asymptomatic even if untreated, some develop slowly progressive dystonia an leukoencephalopathy.

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