Glutaric aciduria (type I): prenatal ultrasonographic findings

Mutation analysis in glutaric aciduria type I.

Glutaric aciduria type 1 (GA1), resulting from the genetic deficiency of glutaryl-CoA dehydrogenase (GDH), is a relatively common cause of acute metabolic brain damage in infants. Encephalopathic crises may be prevented by carnitine supplementation and diet, but diagnosis can be difficult as some patients do not show the typical excretion of large amounts of glutaric and 3-hydroxyglutaric acids...

Glutaric aciduria type 1: MR findings in two cases.

Glutaric aciduria type 1 is an autosomal recessive metabolic disorder caused by a deficiency of glutaryi-CoA dehydrogenase. This disorder is characterized by progressive dystonia and dyskinesia. Laboratory evaluation demonstrates excessive levels of glutaric acid urinary excretion as well as absence of demonstrable functional levels of glutaryi-CoA in fibroblast cultures. We present the CT and ...

A diet-induced mouse model for glutaric aciduria type I.

In the autosomal recessive human disease, glutaric aciduria type I (GA-1), glutaryl-CoA dehydrogenase (GCDH) deficiency disrupts the mitochondrial catabolism of lysine and tryptophan. Affected individuals accumulate glutaric acid (GA) and 3-hydroxyglutaric acid (3-OHGA) in the serum and often suffer acute striatal injury in childhood. Prior attempts to produce selective striatal vulnerability i...

Glutaric aciduria type 1 in adulthood.

Glutaric aciduria type 1--importance of early diagnosis and treatment.

Glutaric aciduria type 1 is a rare inherited organic academia. Untreated patients characteristically develop dystonia secondary to striatal injury during early childhood, which results in high morbidity and mortality. In patients diagnosed during neonatal period, striatal injury can be prevented by metabolic treatment including low lysine diet, carnitine supplementation and aggressive emergency...