Sentences with word «aciduria»

NORMAL / CLEAR - the dog has two copies of the normal gene and it is not going to develop L -2-hydroxyglutaric aciduria caused by the mutation in the L2HGDH gene.

The procedure may be effective for other inherited metabolic diseases, including phenylketonuria and organic acidurias, said Christopher Lynch, professor of cellular and molecular physiology, lead researcher.

His lab discovered the genetic bases of gray platelet syndrome, Hartnup disease, arterial calcification due to deficiency of CD73, 3 - methylglutaconic aciduria type III, 3 types of HPS, and neutropenia due to VPS45 deficiency.

AFFECTED - the dog has two copies of the L -2-HGA mutation and is expected to develop L -2-hydroxyglutaric aciduria caused by the L -2-HGA mutation, assuming it survives to an appropriate age.

A mutation in the L2HGDH gene causing the L -2-hydroxyglutaric aciduria in the Staffordshire Bull Terrier breed has been identified by scientists from Animal Health Foundation in Great Britain [2].

L - 2 Hydroxyglutaric Aciduria is an inherited condition affecting the central nervous system.

Whole Exome Sequencing Identifies an Adult - Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.

The traditional or modified ketogenic diets should not be used in individuals who have fatty acid oxidation defects, pyruvate carboxylase deficiency, primary carnitine deficiencies, organic acidurias, defects in ketone metabolism, disorders that require high dietary carbohydrates as part of their treatment, severe liver disease or hypoglycaemia under investigation (4).

CLPB mutations cause 3 - methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

L -2-HGA in the Staffordshire Bull Terrier is inherited as an autosomal recessive trait, which means that only dogs that have inherited two copies of the mutant DNA from both parents, will develop this form of L -2-hydroxyglutaric aciduria.

L -2-hydroxyglutaric aciduria (L -2-HGA) in Staffordshire Bull Terrier is a neurometabolic disorder that produces a variety of clinical neurological deficits, including epileptic seizures, wobbly gait, tremors, and muscle stiffness as a result of exercise or excitement.

L -2-hydroxyglutaric aciduria; characterization of the molecular defect in a spontaneous canine model.

These affected dogs usually excrete high levels of the compound in their urine, hence the term «aciduria».