同: short-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）』「2014/09/07 11:30:26」(JST)

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3-hydroxyacyl-coenzyme A dehydrogenase deficiency (HADH deficiency) is a rare condition that prevents the body from converting certain fats to energy, particularly during fasting. Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to metabolize fats and convert them to energy. People with 3-hydroxyacyl-coenzyme A dehydrogenase deficiency have inadequate levels of an enzyme required for a step that metabolizes groups of fats called medium chain fatty acids and short chain fatty acids; for this reason this disorder is sometimes called medium- and short-chain 3-hydroxyacyl-coenzyme A dehydrogenase (M/SCHAD) deficiency.

Signs and symptoms

Typically, initial signs and symptoms of this disorder occur during infancy or early childhood and can include poor appetite, vomiting, diarrhea, lethargy, hypoglycemia, hypotonia, liver problems, and abnormally high levels of hyperinsulinism. Insulin controls the amount of sugar that moves from the blood into cells for conversion to energy. Individuals with 3-hydroxyacyl-coenzyme A dehydrogenase deficiency are also at risk for complications such as seizures, life-threatening heart and breathing problems, coma, and sudden unexpected death.

Problems related to 3-hydroxyacyl-coenzyme A dehydrogenase deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.

Cause and genetics

Mutations in the HADH gene lead to inadequate levels of an enzyme called 3-hydroxyacyl-coenzyme A dehydrogenase. Medium-chain and short-chain fatty acids cannot be metabolized and processed properly 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. Medium-chain and short-chain fatty acids or partially metabolized fatty acids may build up in tissues and damage the liver, heart, and muscles, causing more serious complications.

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not show signs and symptoms of the disorder.

References

National Library of Medicine. Genetics Home Reference - 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

UpToDate Contents

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1. 脂質およびプリン代謝障害による代謝性ミオパチー metabolic myopathies caused by disorders of lipid and purine metabolism
2. 乳児および小児における低血糖に対するアプローチ approach to hypoglycemia in infants and children
3. 幼児の持続性高インスリン血症性低血糖症の病因、臨床的特徴、および診断 pathogenesis clinical features and diagnosis of persistent hyperinsulinemic hypoglycemia of infancy
4. 乳児の持続性高インスリン血症性低血糖症の治療および合併症 treatment and complications of persistent hyperinsulinemic hypoglycemia of infancy
5. Causes of hypoglycemia in infants and children

English Journal

Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.

Polinati PP1, Ilmarinen T2, Trokovic R1, Hyotylainen T3, Otonkoski T4, Suomalainen A4, Skottman H2, Tyni T4.
Investigative ophthalmology & visual science.Invest Ophthalmol Vis Sci.2015 May 1;56(5):3371-82. doi: 10.1167/iovs.14-14007.
PURPOSE: Retinopathy is an important manifestation of trifunctional protein (TFP) deficiencies but not of other defects of fatty acid oxidation. The common homozygous mutation in the TFP α-subunit gene HADHA (hydroxyacyl-CoA dehydrogenase), c.1528G>C, affects the long-chain 3-hydroxyacyl-CoA deh
PMID 26024122

Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast.

Haglind CB1, Nordenström A, Ask S, von Döbeln U, Gustafsson J, Stenlid MH.
Journal of inherited metabolic disease.J Inherit Metab Dis.2015 Mar;38(2):315-22. doi: 10.1007/s10545-014-9750-3. Epub 2014 Aug 21.
Children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) have a defect in the degradation of long-chain fatty acids and are at risk of hypoketotic hypoglycemia and insufficient energy production as well as accumulation of toxic fatty acid intermediates. Knowledge on substrate meta
PMID 25141826

Transient central diabetes insipidus induced by ketamine infusion.

Hatab SZ1, Singh A2, Felner EI3, Kamat P2.
The Annals of pharmacotherapy.Ann Pharmacother.2014 Dec;48(12):1642-5. doi: 10.1177/1060028014549991. Epub 2014 Sep 15.
OBJECTIVE: Report a case of central diabetes insipidus (DI) associated with ketamine infusion.CASE SUMMARY: A 2-year-old girl with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and stable hypertrophic cardiomyopathy was admitted to the pediatric intensive care with pneumonia. She subsequentl
PMID 25225198

Japanese Journal

短鎖3-ヒドロキシアシル-CoA脱水素酵素欠損症と遺伝子診断した1例

七條光市,梅本多嘉子,杉本真弓 [他],松浦里,東田栄子,渡邉力,中津忠則,吉田哲也,内藤悦雄,重松陽介,平岡政弘
日本小児科学会雑誌 113(11), 1705-1710, 2009-11-01
NAID 10026276613

SHORT-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE (SCHAD) DEFICIENCY AND NEWBORN SCREENING BY TANDEM MASS SPECTROMETRY

SHIGEMATSU Y,HATA I,TANAKA Y,SHICHIJO K,UMEMOTO T,NAKATSU T,YOSHIDA T,NAITO E
JOURNAL OF INHERITED METABOLIC DISEASE 31, 38-38, 2008-08
NAID 120001256700

「deficiency」

3-hydroxyacyl-coenzyme A dehydrogenase deficiency
	Classification and external resources
OMIM	601609 231530
DiseasesDB	34396

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n.

不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの

関: absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve

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案内

案内

SCHAD deficiency