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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/05/08 22:27:04」(JST)

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Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is a fatty acid oxidation disorder which prevents the body from converting certain fats to energy, particularly during periods without food.

Those affected by this disorder have inadequate levels of an enzyme that breaks down a group of fats called very long-chain fatty acids.

Diagnosis

Typically, initial signs and symptoms of this disorder occur during infancy and include low blood sugar (hypoglycemia), lack of energy (lethargy), and muscle weakness. There is also a high risk of complications such as liver abnormalities and life-threatening heart problems. Symptoms that begin later in childhood, adolescence, or adulthood tend to be milder and usually do not involve heart problems. Episodes of very long-chain acyl-coenzyme A dehydrogenase deficiency can be triggered by periods of fasting, illness, and exercise.

It is common for babies and children with the early and childhood types of VLCADD to have episodes of illness called metabolic crises. Some of the first symptoms of a metabolic crisis are: extreme sleepiness, behavior changes, irritable mood, poor appetite. Some of these other symptoms of VLCADD in infants may also follow: fever, nausea, diarrhea, vomiting, hypoglycemia.

Treatment

If a metabolic crisis is not treated, a child with VLCADD can develop: breathing problems, seizures, coma, sometimes leading to death.

Genetics

Very long-chain acyl-coenzyme A dehydrogenase deficiency has an autosomal recessive pattern of inheritance.

Mutations in the ACADVL gene lead to inadequate levels of an enzyme called very long-chain acyl-coenzyme A (CoA) dehydrogenase. Without this enzyme, very long-chain fatty acids from food and fats stored in the body cannot be degraded and processed. As a result, these fatty acids are not converted into energy, which can lead to characteristic signs and symptoms of this disorder, such as lethargy and hypoglycemia. Levels of very long-chain fatty acids or partially degraded fatty acids may build up in tissues and can damage the heart, liver, and muscles, causing more serious complications.

External links

GeneReviews/NCBI/NIH/UW entry on Very long-chain acyl-coenzyme A dehydrogenase deficiency
Very long-chain acyl-coenzyme A dehydrogenase deficiency at NLM Genetics Home Reference
The Screening, Technology And Research in Genetics (STAR-G) Project

UpToDate Contents

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1. 先天性代謝異常：代謝性救急疾患 inborn errors of metabolism metabolic emergencies
2. 代謝性ミオパチーの原因 causes of metabolic myopathies

English Journal

Contractile and metabolic properties of engineered skeletal muscle derived from slow and fast phenotype mouse muscle.

Khodabukus A1, Baar K.
Journal of cellular physiology.J Cell Physiol.2015 Aug;230(8):1750-7. doi: 10.1002/jcp.24848.
Satellite cells derived from fast and slow muscles have been shown to adopt contractile and metabolic properties of their parent muscle. Mouse muscle shows less distinctive fiber-type profiles than rat or rabbit muscle. Therefore, in this study we sought to determine whether three-dimensional muscle
PMID 25335966

Comparative analysis of the hepatopancreas transcriptome of grass carp (Ctenopharyngodon idellus) fed with lard oil and fish oil diets.

Tian JJ1, Lu RH2, Ji H3, Sun J1, Li C1, Liu P1, Lei CX1, Chen LQ4, Du ZY4.
Gene.Gene.2015 Jul 10;565(2):192-200. doi: 10.1016/j.gene.2015.04.010. Epub 2015 Apr 10.
n-3 highly unsaturated fatty acids (n-3 HUFAs) have been shown to suppress lipid accumulation and improve protein utilization in grass carp; however, little is known about the underlying molecular mechanism. Hence, we analyzed the hepatopancreas transcriptome of grass carp (Ctenopharyngodon idellus)
PMID 25865300

Sexual dimorphism of lipid metabolism in very long-chain acyl-CoA dehydrogenase deficient (VLCAD(-/-)) mice in response to medium-chain triglycerides (MCT).

Tucci S1, Flögel U2, Spiekerkoetter U3.
Biochimica et biophysica acta.Biochim Biophys Acta.2015 Jul;1852(7):1442-50. doi: 10.1016/j.bbadis.2015.04.009. Epub 2015 Apr 15.
Medium-chain triglycerides (MCT) are widely applied in the treatment of long-chain fatty acid oxidation disorders. Previously it was shown that long-term MCT supplementation strongly affects lipid metabolism in mice. We here investigate sex-specific effects in mice with very-long-chain-acyl-CoA dehy
PMID 25887160

Japanese Journal

極長鎖アシルCoA脱水素酵素(VLCAD)欠損症の22歳女性例に対する食事療法の試み

春木明代,川井元晴,小笠原淳一,古賀道明,根来清,神田隆
臨床神経学 50(3), 172-174, 2010-03-01
NAID 10026291634

経過中血液ろ紙分析でカットオフ値を下回った極長鎖アシル-CoA脱水素酵素欠損症の2例 : 血清分析の必要性

虫本雄一,小林弘典,長谷川有紀,坂本修,大浦敏博,山口清次
日本マス・スクリーニング学会誌 = Journal of Japanese Society for Mass-screening 19(3), 255-259, 2009-12-01
NAID 10026395084

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★リンクテーブル★

リンク元	「very-long-chain acyl-CoA dehydrogenase」「極長鎖アシルCoA脱水素酵素」「long-chain acyl-CoA dehydrogenase」
拡張検索	「VLCAD欠損症」「VLCAD deficiency」