Study of Protein Translocation in Patients With Beta-Oxidation Disorders
Summary
OBJECTIVES:
I. Characterize inheritance patterns of mutations in patients with beta-oxidation disorders.
Description
PROTOCOL OUTLINE:
Patients undergo clinical and molecular analysis of beta-oxidation enzyme metabolism. The evaluation includes a urinary metabolite profile, and DNA and familial studies.
Study Design
Primary Purpose: Screening
Conditions
Beta-Oxidation Disorder
Status
Active, not recruiting
Source
Office of Rare Diseases (ORD)
Results (where available)
Links
- Source: http://clinicaltrials.gov/show/NCT00004348
- Information obtained from ClinicalTrials.gov on July 15, 2010
Medical and Biotech [MESH] Definitions
Beta-alanine
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.
Acyl-coa Dehydrogenases
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.
20-hydroxysteroid Dehydrogenases
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 1.1.1.149) or to a 20-beta-hydroxysteroid (EC 1.1.1.53).
Beta-galactosidase
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.
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PubMed Articles
Beta-Oxidation Is Essential for Mouse Oocyte Developmental Competence and Early Embryo Development.
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Inverted regioselectivity of C-H amination: Unexpected oxidation at beta- rather than gamma-C-H.
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