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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… 
National Institutes of Health

Related topics

Related topics

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

Broader (6)

Cerebral degenerationLipid Metabolism, Inborn ErrorsOrganic brain syndromeacyl-CoA dehydrogenase

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
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… 
Highly Cited
1998
Highly Cited
1998
Very long chain acyl‐coenzyme A dehydrogenase deficiency with adult onset
Very long chain acyl‐coenzyme A (acyl‐CoA) dehydrogenase (VLCAD) deficiency is a severe disorder of mitochondrial β‐oxidation in… 
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… 
Highly Cited
1994
Highly Cited
1994
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.
Highly Cited
1994
Highly Cited
1994
Very long‐chain acyl coenzyme A dehydrogenase deficiency presenting with exercise‐induced myoglobinuria
A young man presented with recurrent episodes of muscle pain and myoglobinuria after prolonged exercise or fasting. Studies on… 
Review
1993
Review
1993
Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency.
Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency has not been thought to be associated with significant neonatal… 
Highly Cited
1990
Highly Cited
1990
Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism
ConclusionA method for analysis of acylcarnitines in blood at physiological concentrations has been developed. Preliminary… 
Highly Cited
1986
Highly Cited
1986
Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.
A family is described in which the father and three (and probably all four) of his children had a decreased capacity for the… 
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… 
Highly Cited
1973
Highly Cited
1973
Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria
Muscle carnitine palmityltransferase activity, measured by three different methods, was very low (0 to 20 percent of controls) in… 
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