aciduria การใช้

• Complications from argininosuccinic aciduria may include developmental delay and mental retardation.
• Laboratory studies showed 3-hydroxyisobutyric aciduria and mild lactic acidosis.
• Defective UMP synthase can result in orotic aciduria, a metabolic disorder.
• -- Glutaric aciduria, or GA-1.
• A UMP synthetase deficiency can result in a metabolic disorder called orotic aciduria.
• Mutations in this gene have been shown to cause metaphyseal chondromatosis with aciduria.
• Fewer than 20 cases of 3-methylglutaconic aciduria type I have been reported.
• They also cause D-2-hydroxyglutaric aciduria and Ollier and Maffucci syndromes.
• One mutation in patients with argininosuccinic aciduria occurs when glutamine 286 is mutated to arginine.
• 3-Methylglutaconic aciduria, seems to be most prevalent amongst the Jewish population of Iraq.
• Mutations in " MUT " gene may lead to various types of methylmalonic aciduria.
• In peroxisomes, the accumulation of this substance causes malonic aciduria, a highly pathogenic disease.
• Urocanic aciduria is thought to be relatively benign . no definitive neurometabolic connection has yet been established.
• The metabolic disease was found to be on a unsaturated dicarboxylic acids, a condition called dicarboxylic aciduria.
• The incidence of 3-methylglutaconic aciduria type II is approximately 1 in 200, 000 male infants.
• Uridine triacetate is a drug approved by FDA to be used in the treatment of hereditary orotic aciduria.
• Glutaric aciduria type 1, in many cases, can be defined as a cerebral palsy of genetic origins.
• Mutations in the L2HGDH gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder.
• Mutations in IDH2 are associated with 2-hydroxyglutaric aciduria, a condition that causes progressive damage to the brain.
• Mutations in the gene are the cause of vitamin B 12-dependent methylmalonic aciduria linked to the cblB complementation group.