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Wednesday, August 12, 2020 | History

2 edition of Very long-chain acyl-coenzyme A dehydrogenase deficiency found in the catalog.

Very long-chain acyl-coenzyme A dehydrogenase deficiency

James N. Parker

Very long-chain acyl-coenzyme A dehydrogenase deficiency

a bibliography and dictionary for physicians, patients, and genome researchers [to internet references]

by James N. Parker

  • 262 Want to read
  • 38 Currently reading

Published by ICON Health Publications in San Diego, CA .
Written in English

    Subjects:
  • Nutrition,
  • Endocrinology & Metabolism,
  • Bibliography,
  • Fatty acids,
  • Disorders,
  • MEDICAL,
  • Dictionaries,
  • Genetic aspects,
  • Computer network resources,
  • Metabolism

  • Edition Notes

    StatementJames N. Parker and Philip M. Parker, editors
    SeriesA 3-in-1 medical reference, 3-in-1 medical reference
    Classifications
    LC ClassificationsRC627.8 .V47 2007eb
    The Physical Object
    Format[electronic resource] :
    Pagination1 online resource.
    ID Numbers
    Open LibraryOL25554876M
    ISBN 101429496320
    ISBN 109781429496322
    OCLC/WorldCa174134808

    Very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD) is a condition in which the body is unable to break down certain fats. It is considered a fatty acid oxidation condition because people affected by VLCAD are unable to convert some of the fats . Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inherited disorder that is caused by having inadequate amount of the enzyme VLCAD needed to break down certain fats into energy. The symptoms of VLCAD deficiency usually start after a long period of time without eating or during illness. VLCAD deficiency includes three different forms.

    Specialty. Endocrinology. Medium-chain acyl-CoA dehydrogenase deficiency, is a disorder of fatty acid oxidation that impairs the body's ability to break down medium-chain fatty acids into acetyl-CoA. The disorder is characterized by hypoglycemia and sudden death without timely intervention, most often brought on by periods of fasting or vomiting. Prior to expanded newborn screening, MCADD was an Specialty: Endocrinology.   The ACADVL gene provides instructions for making an enzyme called very long-chain acyl-CoA dehydrogenase (VLCAD). This enzyme functions within mitochondria, the energy-producing centers in cells. Very long-chain acyl-CoA dehydrogenase is essential for fatty acid oxidation, which is the multistep process that breaks down (metabolizes) fats and converts them to energy.

      Fahnehjelm KT, Holmström G, Ying L, Haglind CB, Nordenström A, Halldin M, Alm J, Nemeth A, von Döbeln U. Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up. Acta Ophthalmol. May;86(3) Epub Dec Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive disorder of mitochondrial fatty acid beta-oxidation. Mitochondrial beta-oxidation plays a major role in energy production and VLCAD catalyzes the first step in the breakdown of .


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Very long-chain acyl-coenzyme A dehydrogenase deficiency by James N. Parker Download PDF EPUB FB2

Deficiency of very long-chain acyl-CoA dehydrogenase (VLCAD), which catalyzes the initial step of mitochondrial β-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons, is associated with three by:   Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).

Signs and symptoms of VLCAD deficiency typically appear during infancy or early childhood and can include low blood sugar (hypoglycemia), lack of energy (lethargy), and muscle weakness.

Excerpted from the GeneReview: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Deficiency of very long-chain acyl-CoA dehydrogenase (VLCAD), which catalyzes the initial step of mitochondrial β-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons, is associated with three phenotypes.

Deficiency of very long-chain acyl-CoA dehydrogenase (VLCAD), which catalyzes the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons, is.

A 5-month-old Korean boy who presented with lethargy and cardiomyopathy was diagnosed with very long chain acyl coenzyme A dehydrogenase (VLCAD) deficiency by organic acid, fatty acid, acylcarnitine, and molecular genetic by: 6.

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency begins in infancy with hypoketotic hypoglycemia, x hepatic steatosis, cardiomyopathy, and elevated plasma levels of long-chain acylcarnitines.

Metabolic acidosis, dicarboxylic aciduria, and increased serum CK with myoglobinuria have also been noted. Summary Very long‐chain acyl‐coenzyme A dehydrongenase deficiency (VLCADD) is a rare disorder of fatty acid metabolism that renders sufferers susceptible to hypoglycemia, liver failure, cardiomyopathy, and by: 6.

Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency is a newly identified disease. A bp deletion in the VLCAD cDNA in two patients has been reported, and detailed molecular characterization of this disease has remained to be by:   Mitochondrial fatty acid oxidation disorders (FAODs) are caused by defects in β-oxidation enzymes, including very long-chain acyl-CoA dehydrogenase (VLCAD), trifunctional protein Cited by: 9.

Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) deficiency is a rare but treatable, cause of, cardiomyopathy, fatty liver, skeletal myopathy, pericardial effusion, ventricular arrhythmias, and sudden death. Unrecognized, VLCAD deficiency may be rapidly progressive and fatal secondary to.

Medium-chain acyl-coenzyme A dehydrogenase (MCAD) is one of the enzymes involved in mitochondrial fatty acid β-oxidation, which fuels hepatic ketogenesis, a major source of energy once hepatic glycogen stores become depleted during prolonged fasting and periods of higher energy demands.

In a typical clinical scenario, a previously healthy child with MCAD deficiency presents with. Very-long-chain acyl–coenzyme A (CoA) dehydrogenase (VLCAD) deficiency (MIM ) is an autosomal recessive genetic disorder first identified in 1 and now considered one of the more common mitochondrial β-oxidation disorders, 2 with an estimated incidence of 1 in 30, to 1 inbirths.3, 4 The associated disease is clinically heterogeneous in terms of age at onset, severity Cited by: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.

CLINICAL CHARACTERISTICS: Deficiency of very long-chain acyl-CoA dehydrogenase (VLCAD), which catalyzes the initial step of mitochondrial β-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons, is associated with three phenotypes.

If one ACADVL pathogenic. Despite the conflicting literature addressing the perioperative management in patients with VLCADD (very long-chain acyl-CoA dehydrogenase deficiency), volatile agents can be used safely if other important precautions are provided, such as an adequate glucose infusion and the minimization of the fasting period and surgical stress, taking into account the severity of the by: 1.

Very-Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency in Mice. Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a rare genetic condition that prevents the body from converting certain fats (called short-chain fatty acids) into energy.

This condition belongs to a group of disorders known as fatty acid oxidation disorders (FOD). SCAD deficiency is caused by mutations in the ACADS gene.

These mutations lead to a shortage (deficiency) of an. Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) is a key enzyme catalysing the dehydrogenation of long-chain fatty acids in mitochondrial β-oxidation.

VLCAD deficiency is a genetic disorder that commonly presents in infancy or childhood with episodes of hypoketotic hypoglycaemia, cardiomyopathy and liver dysfunction. The present study reports an yr-old Chinese Cited by:   Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an inherited metabolic disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).

People with MCADD do not have enough of an enzyme needed to metabolize a group of fats called medium-chain fatty acids. Signs and symptoms usually begin by. Very long chain fatty acid dehydrogenase (VLCAD) deficiency is a rare but treatable cause of cardiomyopathy, fatty liver, skeletal myopathy, pericardial effusions, ventricular arrhythmias, and sudden death.

Unrecognized, VLCAD deficiency may be rapidly progressive and fatal, secondary to its cardiac involvement. Because early diagnosis improves outcome, we present a neonate with VLCAD Cited by: Very-Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency The chain length of their preferred substrates describes four mitochondrial acyl-CoA dehydrogenases: short, medium, long, and very long (VLCAD).

The first three are located in the mitochondrial matrix, and deficiency causes recurrent coma (see Chapter 2). Very-long-chain acyl-coenzyme a dehydrogenase deficiency in mice.

Exil VJ, Roberts RL, Sims H, McLaughlin JE, Malkin RA, Gardner CD, Ni G, Rottman JN, Strauss AW Circ Res. 93 (5):   Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an inherited disorder that prevents your body from breaking down certain fats and converting them into energy.

As a result, the level of sugar in your blood can drop dangerously low.VERY LONG CHAIN ACYL CoA DEHYDROGENASE (VLCADD) DEFICIENCY INTRODUCTION Very long Chain Acyl CoA Dehydrogenase Deficency (VLCADD) is an autosomal recessive disorder resulting in an intramitochondrial defect in the β-oxidation of fatty acids.

It can cause severe hypoketotic hypoglycemia, encephalopathy, lethargy, liver dysfuctionFile Size: 28KB.