glutaric acidemia type 2

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glutaric acidemia type 2

An autosomal recessive disorder (OMIM:231680) of fatty acid, amino acid and choline metabolism. It is characterised by multiple acyl-CoA dehydrogenase deficiencies resulting in marked excretion of glutaric acid, as well as lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric and isovaleric acids.  Glutaric acidemia type 2 is divided into three subunits:
(1) Glutaric acidemia 2A (OMIM:608053);
(2) Glutaric acidemia 2B (OMIM:231680); and
(3) Glutaric acidemia 2C (OMIM:231675).
 
Molecular pathology
Defects in genes ETFA, ETFB and ETFDH, which are involved in electron transfer in the mitochondrial respiratory chain, cause glutaric acidemia type 2A, 2B and 2C, respectively.
References in periodicals archive ?
These conditions are homocystinuria (HCU), maple syrup urine disease (MSUD), glutaric aciduria type 1 (GA1) and isovaleric acidaemia (IVA).
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).
caregiver for son with Glutaric Aciduria Type II and Amanda M.
Genetic population studies have shown, for example, that high carrier frequencies of single mutations in the South African black population are responsible for most cases of glutaric aciduria type 1 (GA1), galactosaemia and cystinosis.
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.
Benefit for patients with disorders on the new expanded list has been demonstrated clearly for MCAD deficiency and glutaric aciduria type 1, and for all disorders taken together, and we have assessed this when patients and controls have been 6 years old.
An adult with a movement disorder and bilateral temporal arachnoid cysts by brain imaging was found to have very elevated glutaric acid, indicating the presence of the genetic disease glutaric aciduria type I.
Any attempt to completely eliminate the possibility of missing a true case of glutaric aciduria type 1 may come at the cost of establishing a cutoff so close to the mean as to result in an unacceptably high number of alerts.
Harry Vyse aged 12 from Staffordshire has Glutaric Aciduria Type 1, a progressive genetic disorder.