The incidence of 3-methylglutaconic aciduria type III is about 1 in 10, 000 newborns in the Iraqi Jewish population.
22.
He also defined new amino-acid diseases such as various forms of Fanconi syndrome, Hartnup disease, argininosuccinic aciduria and homocystinuria.
23.
This can be distinguished from hereditary orotic aciduria ( seen above ) by assessing blood ammonia levels and blood urea nitrogen ( BUN ).
24.
Deficiencies of enzymes involved in pyrimidine synthesis can lead to the genetic disease Orotic aciduria which causes excessive excretion of orotic acid in the urine.
25.
Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation.
26.
These include 4-Hydroxybutyric aciduria, 3-methylglutaconyl-Co A hydratase deficiency, multiple carboxylase deficiency, methylmalonic acidemia, and propionic acidemia.
27.
This neonatal encephalopathy includes a heterogeneous group of 3-methylgutaconic aciduria syndromes and loss of CLPB function is reported to be one of the causes.
28.
In argininosuccinic aciduria, the enzyme argininosuccinate lyase, involved in the conversion of arginino succinate to arginine within the urea cycle, is damaged or missing.
29.
Patients with L-2-hydroxyglutaric aciduria are associated with moderate to severe mental retardation, psychomotor retardation, cerebellar ataxia, macrocephaly, or epilepsy.
30.
In another case, a newborn was taken from her parents in Denver in 1991 before doctors diagnosed her with glutaric aciduria type 1, a liver disorder.
