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Medium-chain acyl-coenzyme A dehydrogenase deficiency

Known as: ACADM DEFICIENCY, Acyl-CoA dehydrogenase, medium chain, deficiency of, Medium chain acyl CoA dehydrogenase deficiency 
A genetic disorder characterized by deficiency of the enzyme medium-chain acyl-coenzyme A dehydrogenase that metabolizes medium-chain fatty acids… Expand
National Institutes of Health

Related topics

Related topics

28 relations
ACADM geneACADM wt AlleleACADM, 6-BP DEL, GLY90 AND CYS91Autosomal recessive inheritance
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Broader (6)

Cerebral degenerationLipid Metabolism, Inborn ErrorsOrganic brain syndromeacyl-CoA dehydrogenase
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Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
Inferences on the timeline of reionization at z ∼ 8 from the KMOS Lens-Amplified Spectroscopic Survey
Detections and non-detections of Lyman alpha (Ly$\alpha$) emission from $z>6$ galaxies ($<1$ Gyr after the Big Bang) can be used… Expand
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Highly Cited
2008
Highly Cited
2008
Genetics Meets Metabolomics: A Genome-Wide Association Study of Metabolite Profiles in Human Serum
The rapidly evolving field of metabolomics aims at a comprehensive measurement of ideally all endogenous metabolites in a cell or… Expand
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Highly Cited
2007
Highly Cited
2007
Effects of Galaxy Formation on Thermodynamics of the Intracluster Medium
We present detailed comparisons of the intracluster medium (ICM) in cosmological Eulerian cluster simulations with deep Chandra… Expand
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Highly Cited
2006
Highly Cited
2006
Selective elimination of glutamatergic synapses on striatopallidal neurons in Parkinson disease models
Parkinson disease is a common neurodegenerative disorder that leads to difficulty in effectively translating thought into action… Expand
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Review
2004
Review
2004
Alcoholic fatty liver: its pathogenesis and mechanism of progression to inflammation and fibrosis.
Liver disease in the alcoholic is due not only to malnutrition but also to ethanol's hepatotoxicity linked to its metabolism by… Expand
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Highly Cited
2000
Highly Cited
2000
Crystallographic analysis reveals common modes of binding of medium and long-chain fatty acids to human serum albumin.
Human serum albumin (HSA) is an abundant plasma protein that is responsible for the transport of fatty acids. HSA also binds and… Expand
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Highly Cited
1994
Highly Cited
1994
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.
Medium-chain acyl-coenzyme A dehydrogenase deficiency is an autosomal recessive disorder of beta-oxidation of fatty acids… Expand
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Highly Cited
1994
Highly Cited
1994
Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency.
Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency presents with episodic fasting, hypoketotic hypoglycaemia, and coma… Expand
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Highly Cited
1994
Highly Cited
1994
The peroxisome proliferator-activated receptor regulates mitochondrial fatty acid oxidative enzyme gene expression.
Medium-chain acyl-CoA dehydrogenase (MCAD) catalyzes a pivotal reaction in mitochondrial fatty acid (FA) beta-oxidation. To… Expand
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Highly Cited
1985
Highly Cited
1985
Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency: An Inherited Cause of Nonketotic Hypoglycemia
ABSTRACT: Three children from unrelated families presented in early childhood with hypoglycemia and cardiorespiratory arrests… Expand
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