Study of Protein Translocation in Patients With Beta-Oxidation Disorders

2014-08-27 03:58:18 | BioPortfolio



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.

Study Design

Primary Purpose: Screening


Beta-Oxidation Disorder


Active, not recruiting


Office of Rare Diseases (ORD)

Results (where available)

View Results


Published on BioPortfolio: 2014-08-27T03:58:18-0400

Clinical Trials [1133 Associated Clinical Trials listed on BioPortfolio]

Hepatic Glycogen and Fat Oxidation

Excessive fat in the liver is associated with impairments in metabolic health. Low levels of DNL and high levels of hepatic fat oxidation are considered to be protective. A decrease in gl...

Fatty Acid Oxidation Defects and Insulin Sensitivity

The purpose of this study is to learn more about what causes insulin resistance. It has been suggested that proper breakdown of fat into energy (oxidation) in the body is important to all...

Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation Disorder

Humans eat long-chain fat in their diet and use it for energy during exercise and during periods of fasting. Patients with long-chain fatty acid oxidation disorders cannot use dietary fat ...

Determinants and Within-subject Variability of Maximal Fat Oxidation During Exercise in Adults

The ability to upregulate fat oxidation at appropriate times such as during fasting, low to moderate intensity exercise and after a high fat meal, is an important marker of health and a de...

Impact of Exercise Combined With Inulin Propionate Ester on Fat Oxidation

There is evidence to suggest that responsiveness to exercise training programmes can be expected to be influenced by changes in resting fat oxidation, an important factor in the aetiology ...

PubMed Articles [8184 Associated PubMed Articles listed on BioPortfolio]

Beta band oscillatory deficits during working memory encoding in adolescents with attention deficit hyperactive disorder.

Attention-Deficit Hyperactivity Disorder (ADHD) is a neurobehavioural disorder, characterized by symptoms of inattention and/or hyperactivity/impulsivity, in addition to various cognitive deficits, in...

Comparison of chronic daily headache with and without medication overuse headache using ICHD II R and ICHD 3 beta criteria.

To evaluate the frequency of Medication Overuse Headache (MOH) in the patients with Chronic Daily Headache (CDH) using International Classification of Headache Disorder II Revision (ICHD II R) and Int...

Selective Formation of Helical Tetrapyrrin-fused Porphyrins by Oxidation of beta-to-beta Linked meso-Aminoporphyrin Dimers.

Oxidation of β-to-β directly linked and sulfur-bridged meso-amino NiII-porphyrin dimers with PbO2 gave helical tetrapyrrin (biliverdin analogue)-fused NiII-porphyrins. These ring cleaving reactions ...

Optimization of ultrasound parameters and its effect on the properties of the activity of beta-glucosidase in apricot kernels.

In this paper, ultrasound was used as an auxiliary tool to activate the activity of beta-glucosidase (beta-GC) in apricot kernels, and its parameters were optimized to evaluate the effects on the beta...

Misconceptions and Facts about Beta-Blockers.

Beta-blockers are commonly used medications, and they have been traditionally considered 'cardioprotective'. Their clinical use appears to be more widespread than the available evidence base supportin...

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.

A PEROXISOME-specific enzyme that catalyzes the hydration step of the beta-oxidation pathway.

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 or to a 20-beta-hydroxysteroid (EC

More From BioPortfolio on "Study of Protein Translocation in Patients With Beta-Oxidation Disorders"

Quick Search

Relevant Topics

Enzymes are proteins that catalyze (i.e., increase the rates of) chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical re...

Benign Prostatic Hyperplasia (BPH) Erectile Dysfunction Urology Urology is the branch of medicine concerned with the urinary tract and diseases that affect it. Examples include urethritis, urethrostenosis and incontinence. Urology is a su...

Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...

Searches Linking to this Trial