glutaric aciduria


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Related to glutaric aciduria: glutaric aciduria type 2

glutaric aciduria

An inherited disorder marked by multiple neurological deficits in childhood, including motor dysfunction, developmental delay, and brain atrophy. It is caused by defective manufacture of glutaryl-coenzyme A dehydrogenase.
See also: aciduria
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References in periodicals archive ?
Hoffman, "Acrodermatitis acidemica secondary to malnutrition in glutaric aciduria type I," European Journal of Dermatology, vol.
One case of Glutaric aciduria with prominent sulcal spaces noted in bilateral fronto-parieto-temporal lobes with open sylvian fissures and sub-acute sub-dural haemorrhage, T2WI/FLAIR hyperintensities showing subtle restriction on DWI noted in bilateral basal ganglia.
Glutaric aciduria type 1 in South Africa--high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans.
The Newborn Blood Spot Screening Programme has been extended from January 5, to screen for an additional four rare, but potentially disabling, conditions which are homocystinuria (HCU), maple syrup urine disease (MSUD), glutaric aciduria type 1 (GA1) and isovaleric acidaemia (IVA).
From early next year, 'heel prick' blood samples taken from newborn babies will be tested for four additional metabolic disorders - glutaric aciduria type 1, homocystinuria, isovaleric acidaemia and maple syrup urine disease.
The NHS Newborn Blood Spot Screening programme will be expanded to screen for homocystinuria (HCU), maple syrup urine disease (MSUD), glutaric aciduria type 1 (GA1) and isovaleric acidaemia (IVA).
Glutaric aciduria type 1 is a rare inherited organic academia.
Galactosaemia and glutaric aciduria are two of the most common inherited metabolic diseases in South Africa, affecting 1/14 000 live births each.
(7) Bilateral sylvian fissure arachnoid cysts should raise clinical suspicion for glutaric aciduria type 1, while posterior fossa arachnoid cysts are associated with Down syndrome.
The disorders being screened include thalassemia, sickle cell anemia, homocystinuria, phenylketonuria, glutaric aciduria and methylmalonic aciduria.
TMS tests: Phenylketonuria, Homocystinura, Maple Syrup Urine Disease, Arginino Succinic Aciduria, Citrullinemia, Propionic Acidemia, Methyl Malonic Acidemia, Isovaleric Acidemia, Beta Ketothiolase deficiency, Glutaric Aciduria types 1 & 2, Medium Chain Acyl-CoA Dehydrogenase deficiency, Very Long Chain Acyl CoA Dehydrogenase deficiency, HMG-CoA Lyase deficiency.