glutaric acidaemia BrE
glutaric acidemia AmE
glutaric aciduria

Glutaric acidemia type 2 is a very rare disorder.

Some individuals with glutaric acidemia have developed bleeding in the brain or eyes that could be mistaken for the effects of child abuse.

The severity of glutaric acidemia type 1 varies widely; some individuals are only mildly affected, while others have severe problems.

Babies with glutaric acidemia type 1 often are born with unusually large heads (macrocephaly).

These intermediate breakdown products are particularly prone to affect the basal ganglia, causing many of the signs and symptoms of glutaric acidemia type 1.

Some infants with glutaric acidemia type 2 have birth defects, including multiple fluid-filled growths in the kidneys (polycystic kidneys).

Glutaric acidemia type 2 is an autosomal recessive metabolic disorder that is characterised by defects in the ability of the body to use proteins and fats for energy.

Glutaric acidemia type 2 is caused by a deficiency in either of two enzymes, called electron transfer flavoprotein and electron transfer flavoprotein dehydrogenase.

Glutaric acidemia type 2 often appears in infancy as a sudden metabolic crisis, in which acidosis and low blood sugar (hypoglycemia) cause weakness, behavior changes, and vomiting.

The condition is inherited in an autosomal recessive pattern: mutated copies of the gene GCDH must be provided by both parents to cause glutaric acidemia type 1.

When one of these enzymes is defective or missing, partially broken-down nutrients accumulate in the cells and damage them, causing the signs and symptoms of glutaric acidemia type II.

Mutations in the ETFA, ETFB, and ETFDH genes cause glutaric acidemia type II.

Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants.

Glutaric acidemia type 1 (or "Glutaric Aciduria", "GA1", or "GAT1") is an inherited disorder in which the body is unable to break down completely the amino acids lysine, hydroxylysine and tryptophan.

In addition, two genes sharing a similar vocabulary could be found outside the region outlined in Figure 6e: GCDH (linked to glutaric acidemia type I) and MPI (linked to carbohydrate-deficient glycoprotein syndrome, type Ib).

Deficiency of ETF-QO results in a disorder known as glutaric acidemia type II (also known as MADD for multiple acyl-CoA dehydrogenase deficiency), in which there is an improper buildup of fats and proteins in the body.

In 2003, two California babies, Zachary Wyvill and Zachary Black, were both born with Glutaric acidemia type I. Wyvill's birth hospital only tested for the four diseases mandated by state law, while Black was born at a hospital that was participating in an expanded testing pilot program.

Information on glutaric aciduria type 1 (GA1), the potential effects and available treatments.

Glutaric aciduria type 1, a build up of amino acids in the body that causes damage to the brain and other organs.

Glutaric aciduria type 1, in many cases, can be defined as a cerebral palsy of genetic origins.

In Glutaric aciduria type 1, glutaconic acid accumulates, resulting in brain damage.

Similarly, a devastating disorder called glutaric aciduria was traced to an amino acid problem, with a treatment devised to reduce the risk of brain damage.

Morton ran a test and found glutaric acid in the boy's urine, the unmistakable sign of glutaric aciduria Type 1, known as GA1.

Defects in this metabolic pathway can lead to a disorder called glutaric aciduria, where toxic byproducts build up and can cause severe encephalopathy.

Glutaric aciduria type 1 (GA1): An autosomal recessive disease, GA1 is due to glutaryl-coenzyme A dehydrogenase deficiency.

Electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II), also known as ETFA, is a protein which in humans is encoded by the ETFA gene.

The gene for GA1 had not yet been found - that would not happen for four more years - but the biochemical urine tests Morton ran showed that these children, too, had glutaric aciduria.

Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants.

Glutaryl CoA dehydrogenase deficiency (glutaric aciduria type 1) A urine organic acid profile or an acyl carnitine profile should initially be performed but note that the metabolite levels may be undetectable in some patients.

Glutaric acidemia type 1 (or "Glutaric Aciduria", "GA1", or "GAT1") is an inherited disorder in which the body is unable to break down completely the amino acids lysine, hydroxylysine and tryptophan.

As well as Pompe disease the conditions being considered for the test include Maple syrup urine disease, Isovaleric acidaemia, Glutaric aciduria type 1, Tyrosinaemia, Homocysteinuira, Congential adrenal hyperplasia, and Biliary atresia.

Other disorders that may be accompanied by chorea include abetalipoproteinemia, ataxia-telangiectasia, Fahr disease, glutaric aciduria, Wilson disease, Lesch-Nyhan syndrome, hyperthyroidism, lupus erythematosus, pregnancy (Chorea gravidarum), and certain anticonvulsants or psychotropic agents.

Sheffield Children's NHS Foundation Trust ran the UK pilot to screen babies across the country for five very rare diseases - MSUD, homocystinuria, glutaric aciduria type 1, isovaleric acidaemia and long chain hydroxy acyl CoA dehydrogenase deficiency.

Mutations in the carboxyl-terminal of GCDH have been most identified in patients with glutaric aciduria type I; more specifically, mutations in Ala389Val, Ala389Glu, Thr385Met, Ala377Val, and Ala377Thr all seem to be associated with the disorder because they dissociate to inactive monomers and/or dimers.