aciduria sentence in Hindi
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- The incidence of 3-methylglutaconic aciduria type III is about 1 in 10, 000 newborns in the Iraqi Jewish population.
- He also defined new amino-acid diseases such as various forms of Fanconi syndrome, Hartnup disease, argininosuccinic aciduria and homocystinuria.
- This can be distinguished from hereditary orotic aciduria ( seen above ) by assessing blood ammonia levels and blood urea nitrogen ( BUN ).
- 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.
- Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation.
- These include 4-Hydroxybutyric aciduria, 3-methylglutaconyl-Co A hydratase deficiency, multiple carboxylase deficiency, methylmalonic acidemia, and propionic acidemia.
- 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.
- In argininosuccinic aciduria, the enzyme argininosuccinate lyase, involved in the conversion of arginino succinate to arginine within the urea cycle, is damaged or missing.
- Patients with L-2-hydroxyglutaric aciduria are associated with moderate to severe mental retardation, psychomotor retardation, cerebellar ataxia, macrocephaly, or epilepsy.
- 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.
- Similarly, a devastating disorder called glutaric aciduria was finally traced to an amino acid problem, with a treatment devised to considerably lessen the risks of brain damage.
- "' Glutaric aciduria type 1 ( GA1 ) "': An autosomal recessive disease, GA1 is due to glutaryl-coenzyme A dehydrogenase deficiency.
- GRACILE is an acronym for growth retardation, amino aciduria ( amino acids in the urine ), cholestasis, iron overload, lactic acidosis, and early death.
- Orotic aciduria is associated with megaloblastic anemia due to decreased pyrimidine synthesis, which leads to decreased nucleotide-lipid cofactors needed for erythrocyte membrane synthesis in the bone marrow.
- Mutations in the DHTKD1 gene are associated with alpha-aminoadipic and alpha-ketoadipic aciduria, an autosomal recessive inborn error of lysine, hydroxylysine, and tryptophan degradation.
- In humans this results in the fatal neurometabolic disorder 2-Hydroxyglutaric aciduria whereas plants seem to be to a large extent unaffected by high cellular concentrations of this compound.
- Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises.
- With normal to only slightly elevated levels of histidine present in the liver during urocanic aciduria, the only true metabolic indicator of the disorder can be found in the urine.
- Some of these are metabolic disorders _ such as glutaric aciduria and maple syrup disease, named for the odor of the victim's urine _ which can cause brain damage.
- Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD ( MMADHC ), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin.
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