Classification and goals - GA I

Glutaric aciduria type I is a rare organic aciduria. Untreated patients develop dystonia during infancy resulting in a high morbidity and mortality.

Management goals:

The main goal is to avoid an acute encephalopatic crisis, through a dietary restriction of lysine and supplementation of carnitine.

During acute episodes, management includes, most importantly, increasing energy supply (20-100 % above RDI); omission of natural protein for 24-48 hours followed by a gradual reintroduction; L-carnitine supplementation doubling and close monitoring of glucose, electrolyte and fluid balance, as well as urea and liver status by an informed skilled interdisciplinary team. Adherence to emergency treatment recommendations is imperative in preventing neuronal damage and subsequent secondary dystonia.

Prognosis depends on a timely diagnosis and consequential management and treatment. GA1 is now regarded as a treatable neurometabolic disorder.

References

Kölker S et al. Diagnosis and management of glutaric aciduria type I – revised recommendations. J Inher Metab Dis 2011;34:677-694)
http://www.e-imd.org/en/healthcare-professionals/individual-conditions/organic-acidurias/ga1/index.phtml
Kölker S et al. Natural history outcome and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency (Glutaric aciduria type I). Ped Res 2006;59:840-847
Kölker S et al. Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis 2007;30:5-22.