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Mitochondrial trifunctional protein deficiency; Other names: TFP deficiency [1] Mitochondrial trifunctional protein deficiency has an autosomal recessive pattern of inheritance: Symptoms: Cardiomyopathy, skeletal myopathy [2] Types: Mutations in the HADHA and HADHB gene [2] Diagnostic method: CBC, Urine test [3] Treatment: Low fat diet, Limited ...
3-Methylglutaconic aciduria (MGA) is any of at least five metabolic disorders that impair the body's ability to make energy in the mitochondria. [1] As a result of this impairment, 3-methylglutaconic acid and 3-methylglutaric acid build up and can be detected in the urine. 3-Methylglutaconic acid is an organic acid.
Mitochondrial uncoupling protein 3 (UCP3) is a members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and transfer of protons from the outer to the inner mitochondrial membrane, reducing the mitochondrial membrane potential in mammalian cells.
Test strips estimate urine protein levels by exploiting the ability of protein to interfere with pH indicators. The reagent pad contains an indicator that is buffered to a pH of 3, which changes from yellow to green in the presence of protein. [ 45 ]
Urine cytology — cytopathological examination of cells in the urine, used to screen for cancer [21] Urine protein electrophoresis — classification and measurement of different proteins in the urine; used to help diagnose monoclonal gammopathies [22] Urine organic acids, urine amino acids — used to test for some inborn errors of metabolism [8]
Protein dipstick measurements should not be confused with the amount of protein detected on a test for microalbuminuria which denotes values for protein for urine in mg/day versus urine protein dipstick values which denote values for protein in mg/dL. That is, there is a basal level of proteinuria that can occur below 30 mg/day which is ...
CMAMMA is an inborn, autosomal-recessive metabolic disorder, resulting in a deficiency of the mitochondrial enzyme Acyl-CoA synthetase family member 3 (ACSF3). The ACSF3 gene is located on chromosome 16 locus q24.3 and consists of 11 exons and encodes a 576-amino-acid protein.
Schematic demonstrating mitochondrial fatty acid beta-oxidation and effects of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, LCHAD deficiency. Mitochondrial trifunctional protein (MTP) is a protein attached to the inner mitochondrial membrane which catalyzes three out of the four steps in beta oxidation.
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