同: long-chain L-3-hydroxyacyl CoA dehydrogenase

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〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/06/12 04:45:37」(JST)

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Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, often shortened to LCHAD deficiency, is a rare autosomal recessive fatty acid oxidation disorder that prevents the body from converting certain fats into energy. This can become life-threatening, particularly during periods of fasting.

Schematic demonstrating mitochondrial fatty acid beta-oxidation and effects of LCHAD deficiency

Genetics

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency has an autosomal recessive pattern of inheritance.

Mutations in the HADHA gene lead to inadequate levels of an enzyme called long-chain 3-hydroxyacyl-coenzyme A (CoA) dehydrogenase, which is part of a protein complex known as mitochondrial trifunctional protein. Long-chain fatty acids from food and body fat cannot be metabolized and processed without sufficient levels of this enzyme. As a result, these fatty acids are not converted to energy, which can lead to characteristic features of this disorder, such as lethargy and hypoglycemia. Long-chain fatty acids or partially metabolized fatty acids may build up in tissues and damage the liver, heart, retina, and muscles, causing more serious complications.

Symptoms

Typically, initial signs and symptoms of this disorder occur during infancy or early childhood and can include feeding difficulties, lethargy, hypoglycemia, hypotonia, liver problems, and abnormalities in the retina. Muscle pain, a breakdown of muscle tissue, and abnormalities in the nervous system that affect arms and legs (peripheral neuropathy) may occur later in childhood. There is also a risk for complications such as life-threatening heart and breathing problems, coma, and sudden unexpected death. Episodes of LCHAD deficiency can be triggered by periods of fasting or by illnesses such as viral infections.

External links

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency at NLM Genetics Home Reference
Newbornscreening.info

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English Journal

Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians.

Potter BK, Little J, Chakraborty P, Kronick JB, Evans J, Frei J, Sutherland SC, Wilson K, Wilson BJ.SourceDepartment of Epidemiology & Community Medicine, University of Ottawa, 451 Smyth Rd, Ottawa, Ontario, Canada, K1H 8M5, bpotter@uottawa.ca.
Journal of inherited metabolic disease." abstractLink="yes" alsec="jour" alterm="J Inherit Metab Dis.2011 Jun 1. [Epub ahead of print]
PMID 21630065