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.
32.
"' Glutaric aciduria type 1 ( GA1 ) "': An autosomal recessive disease, GA1 is due to glutaryl-coenzyme A dehydrogenase deficiency.
33.
GRACILE is an acronym for growth retardation, amino aciduria ( amino acids in the urine ), cholestasis, iron overload, lactic acidosis, and early death.
34.
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.
35.
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.
36.
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.
37.
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.
38.
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.
39.
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.
40.
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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