Glutaricaciduria type 1: A rare inherited metabolic disorder where a genetic mutation results in the deficiency of an enzyme called glutaryl-CoA dehydrogenase which is required to metabolise certain amino acids (lysine, hydroxylysine and tryptophan). Problems occur when these metabolites build up in the body and cause neurological problems. Symptoms often develop following an acute infection or fasting. The severity of the condition is highly variable from development of neurological symptoms during infancy to asymptomatic adults. The degree of enzyme deficiency will usually determine the severity. More detailed information about the symptoms, causes, and treatments of Glutaricaciduria type 1 is available below.
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Prognosis for Glutaricaciduria type 1: Early detection and treatment can significantly improve outcomes by avoiding or reducing neurological damage. The underlying condition varies considerably with respect to severity and some patients may remain asymptomatic without treatment. The long term outcome generally depends on avoiding a metabolic crisis which causes neurological damage.
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Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Glutaricaciduria type 1 as a "rare disease".
Source - Orphanet
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