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Glutaric aciduria type I (GA1)

Summary of information

Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria (estimated prevalence is 1 in 100-120,000 newborns). Untreated patients characteristically develop dystonia due to striatal injury during infancy resulting in a high morbidity and mortality. Striatal injury may occur acutely during encephalopathic crises precipitated by catabolic state in infancy or develops insidiously without clinically apparent crises. Glutaric aciduria type I is caused by an autosomal recessive inherited deficiency of glutaryl-CoA dehydrogenase which gives rise to elevated (neurotoxic) glutaric acid and 3-hydroxyglutaric acid as well as (non-toxic) glutarylcarnitine in body fluids.

Glutaric aciduria type I is included in the disease panel of expanded newborn screening in some countries. In the majority of patients diagnosed in the neonatal period, striatal injury can be prevented by metabolic treatment. This includes a low lysine diet, carnitine supplementation and intensified emergency treatment during acute episodes of intercurrent illness. Initiation of treatment after the onset of symptoms is generally less effective. Secondary dystonia is often difficult to treat.

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