Study of Protein Translocation in Patients With Beta-Oxidation Disorders
I. Characterize inheritance patterns of mutations in patients with beta-oxidation disorders.
Patients undergo clinical and molecular analysis of beta-oxidation enzyme metabolism. The evaluation includes a urinary metabolite profile, and DNA and familial studies.
Primary Purpose: Screening
Active, not recruiting
Office of Rare Diseases (ORD)
Results (where available)
- Source: http://clinicaltrials.gov/show/NCT00004348
- Information obtained from ClinicalTrials.gov on July 15, 2010
Medical and Biotech [MESH] Definitions
An amino acid formed in vivo by the degradation of dihydrouracil and carnosine. Since neuronal uptake and neuronal receptor sensitivity to beta-alanine have been demonstrated, the compound may be a false transmitter replacing GAMMA-AMINOBUTYRIC ACID. A rare genetic disorder, hyper-beta-alaninemia, has been reported.
Enzymes that catalyze the first step in the beta-oxidation of FATTY ACIDS.
Hyperlipoproteinemia Type Iii
An autosomal recessively inherited disorder characterized by the accumulation of intermediate-density lipoprotein (IDL or broad-beta-lipoprotein). IDL has a CHOLESTEROL to TRIGLYCERIDES ratio greater than that of VERY-LOW-DENSITY LIPOPROTEINS. This disorder is due to mutation of APOLIPOPROTEINS E, a receptor-binding component of VLDL and CHYLOMICRONS, resulting in their reduced clearance and high plasma levels of both cholesterol and triglycerides.
A group of enzymes that catalyze the reversible reduction-oxidation reaction of 20-hydroxysteroids, such as from a 20-ketosteroid to a 20-alpha-hydroxysteroid (EC 188.8.131.52) or to a 20-beta-hydroxysteroid (EC 184.108.40.206).
A group of enzymes that catalyzes the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-galactosides. Deficiency of beta-Galactosidase A1 may cause GANGLIOSIDOSIS, GM1.
There is evidence that total carbohydrate oxidation during exercise is higher after ingestion of fructose:glucose mixture than after ingestion of equimolar amounts of glucose alone. This m...
Does the consumption of various combinations of mono and disaccharides (lactose, sucrose and fructose) and protein isolates (whey or soy) result in altered substrate absorption, substrate...
RATIONALE: Monoclonal antibodies such as rituximab can locate cancer cells and either kill them or deliver cancer-killing substances to them without harming normal cells. Beta-glucan may i...
Type 2 diabetes mellitus (T2DM) is a chronic metabolic disorder characterized by progressive deterioration in the function of the pancreatic beta-cells, which are the cells that produce an...
To investigate the effect of multiple doses of SLV337 on the pharmacokinetics of simvastatin and simvastatin acid when co-administered in healthy male subjects
Oocyte and embryo metabolism are closely linked with their subsequent developmental capacity. Lipids are a potent source of cellular energy yet little is known about lipid metabolism during oocyte mat...
ABSTRACT: A sample of the beta-Ga2O3/wurtzite GaN heterostructure has been grown by dry thermal oxidation of GaN on a sapphire substrate. X-ray diffraction measurements show that the beta-Ga2O3 layer...
Antioxidant synergism (or antagonism) between plant (iso)flavonoids (daidzein, baicalein, and quercetin) or their glycosides (puerarin, baicalin, and rutin) and beta-carotene in phosphatidylcholine li...
Huntington's disease (HD) is a fatal neurodegenerative disorder causing selective neuronal death in the brain. Dysfunction of the ubiquitin-proteasome system may contribute to the disease; however, th...
A rare example of beta- over gamma-C-H selectivity during Rh-catalysed sulfamate ester cyclisation is presented; from derivatives of 1,6-anhydro-beta-d-mannopyranose, five-membered sulfamidates were f...