Hereditary Orotic Aciduria: Evidence for a Structural Gene Mutation

Hereditary orotic aciduria: evidence for a structural gene mutation.

Orotic aciduria is a rare autosomal recessive disease in man due to a deficiency of orotate phosphoribosyltransferase (EC 2.4.2.10; orotidine-5'-phosphate:pyrophosphate phosphoribosyltransferase) and orotidine-5'-phosphate decarboxylase (EC 4.1.1.23; orotidine-5'-phosphate carboxy-lyase). We have compared certain physicochemical properties of orotidine-5'-phosphate decarboxylase from normal and...

Hereditary Ataxia with a Novel Mutation in the Senataxin Gene: A Case Report

Hereditary ataxias (HA) are a group of inherited neurological disorders caused by changes in genes. At least 115 different mutations in the senataxin (SETX) gene causing ataxia have been identified. There are no reports of any SETX gene mutation among the Iranian population. Here we report on two cases with homozygous and heterozygous mutations in which one patient was affected by HA with oculo...

Hypocholesterolaemia and Orotic Aciduria during Treatment with 6-azauridine.

The uricosuria and orotic aciduria induced by 6-azauridine.

CblC Type Methylmalonic Aciduria with a Novel Homozygous Mutation: A Case Report

Background CombinedMethylmalonic Aciduria (MMA), and homocystinuria CblC type is the most common inborn error of cobalamin metabolism with 77 mutations identified till date in the MMACHC gene. The disease has early and late presentations with varied clinical features. Case report A pair of preterm monochorionic twins was born to non-consanguineous parents with history of 2 previous infant deat...