aciduria

Fewer than 20 cases of 3-methylglutaconic aciduria type I have been reported.

Deficiency in either of these two enzymes lead to a disease known as 2-hydroxyglutaric aciduria.

Opportunity for parents of children with argininosuccinic aciduria to come together for support and information.

The inheritance patterns of 3-methylglutaconic aciduria differ depending on the gene involved.

We suspect that her organic aciduria is associated with mitochondrial dysfunction.

Barth syndrome is a common name for 3-methylglutaconic aciduria type II.

The inheritance pattern of 3-methylglutaconic aciduria type IV is unknown.

The incidence of 3-methylglutaconic aciduria type II is approximately 1 in 200,000 male infants.

Complications from argininosuccinic aciduria may include developmental delay and mental retardation.

Argininosuccinic aciduria occurs in approximately 1 in 70,000 live births.

Urocanic aciduria is thought to be relatively benign.

Mutations in this gene have been shown to cause metaphyseal chondromatosis with aciduria.

Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders.

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

Mutations in the gene for histidase are associated with histidinemia and urocanic aciduria.

Argininosuccinic aciduria is inherited as an autosomal recessive trait.

A buildup of orotic acid can lead to orotic acidemia and aciduria.

Methylglutaconyl-CoA hydratase is an enzyme associated with 3-Methylglutaconic aciduria.

Costeff optic atrophy syndrome is another name for 3-methylglutaconic aciduria type III.

One mutation in patients with argininosuccinic aciduria occurs when glutamine 286 is mutated to arginine.

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.

If UMP synthase is defective, orotic aciduria can result.

Orotic aciduria refers to an excessive excretion of orotic acid in urine.

It has also been used to treat certain hereditary disorders (such as xanthurenic aciduria, cystathioninuria, hyperoxaluria, homocystinuria).