L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder. GCDH is deficient in glutaric aciduria type 1. Hydroxy Glutaric Aciduria (L-2HGA) and Hereditary Cataract (HC-HSF4Hereditary, are known to occur in the breed. A UMP synthase deficiency can result in a metabolic disorder called orotic aciduria. Defective UMP synthase can result in orotic aciduria, a metabolic disorder. Mutations in the ASL gene cause argininosuccinic aciduria. Orotic aciduria is a cause of megaloblastic anaemia. One mutation in patients with argininosuccinic aciduria occurs when glutamine 286 is mutated to arginine. In peroxisomes, the accumulation of this substance causes malonic aciduria, a highly pathogenic disease. Complications from argininosuccinic aciduria may include developmental delay and mental retardation. Deficiency in either of these two enzymes lead to a disease known as 2-hydroxyglutaric aciduria. Barth syndrome is a common name for 3-methylglutaconic aciduria type II. Mutations in "MUT" gene may lead to various types of methylmalonic aciduria. Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders. Mutations in this gene have been shown to cause metaphyseal chondromatosis with aciduria.