Organic Acidurias

Mit változtat a diagnózis

Knowing allows a lysine-restricted diet, carnitine and intensive emergency treatment during illness, which can prevent brain injury.

Vizsgált gének

Más néven

GA1; GCDHD; glutaric acidemia 1; glutaric acidemia type 1; glutaric acidemia type I; glutaricaciduria, type I; glutaryl-coenzyme A dehydrogenase deficiency

Mit változtat a diagnózis

Knowing allows protein restriction, glycine and carnitine supplements and emergency care during illness.

Vizsgált gének

Más néven

isovaleric acid CoA dehydrogenase deficiency; Isovalericacidemia; isovaleryl CoA carboxylase deficiency; isovaleryl-CoA dehydrogenase deficiency; IVA

Mit változtat a diagnózis

Knowing supports awareness of illness-related risk and specialist advice where needed.

Vizsgált gének

Más néven

3-MCC deficiency; 3-methylcrotonylglycinuria; MCC deficiency; MCCD; Methylcrotonyl-CoA carboxylase deficiency

Mit változtat a diagnózis

Knowing allows avoidance of fasting, a low-protein, low-fat diet and an emergency plan.

Vizsgált gének

Más néven

3-OH 3-Methyl glutaric aciduria; defect in leucine metabolism; deficiency of hydroxymethylglutaryl-CoA lyase; HMG CoA lyase deficiency; HMGCLD; Hydroxymethylglutaric aciduria; hydroxymethylglutaryl-CoA lyase deficiency

Mit változtat a diagnózis

Knowing allows avoidance of fasting and prompt glucose treatment during illness.

Vizsgált gének

Más néven

3-ketothiolase deficiency; 3-oxothiolase deficiency; Alpha methylacetoacetic aciduria; Alpha-methyl-acetoacetyl-CoA thiolase deficiency; BKT; mitochondrial acetoacetyl-CoA thiolase deficiency; mitochondrial acetoacetyl-coenzyme A thiolase deficiency; T2 deficiency

Mit változtat a diagnózis

Knowing allows a low-fat, high-carbohydrate diet, carnitine and heart monitoring.

Vizsgált gének

Más néven

malonic acidemia; Malonicaciduria; malonyl-CoA decarboxylase deficiency; MCD deficiency