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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）』「2015/12/15 16:53:31」(JST)

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Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food.

Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty enzyme, Carnitine palmitoyltransferase I, that prevents these long-chain fatty acids from being transported into the mitochondria to be broken down.

Symptoms

Signs and symptoms of this disorder include low levels of ketones (products of fat breakdown that are used for energy) and low blood sugar (hypoglycemia). Together these signs are called hypoketotic hypoglycemia. People with this disorder typically also have an enlarged liver (hepatomegaly), muscle weakness, and elevated levels of carnitine in the blood.

Differential diagnosis

This condition is sometimes mistaken for fatty acid and ketogenesis disorders such as Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCAD), other long-chain fatty acid oxidation disorders such as Carnitine palmitoyltransferase II deficiency (CPT-II) and Reye syndrome.^[1]

Genetics

Carnitine palmitoyltransferase I deficiency has an autosomal recessive pattern of inheritance.

Mutations in the CPT1A gene cause carnitine palmitoyltransferase I deficiency.

Mutations in the CPT1A gene lead to the production of a defective version of an enzyme called carnitine palmitoyltransferase I. Without this enzyme, long-chain fatty acids from food and fats stored in the body cannot be transported into mitochondria to be broken down and processed. As a result, excessive levels of long-chain fatty acids may build up in tissues, damaging the liver, heart, and brain.

This condition has an autosomal recessive inheritance pattern, which means the defective gene is located on an autosome, and two copies of the gene - one from each parent - must be inherited to be affected by the disorder. The parents of a child with an autosomal recessive disorder are carriers of one copy of the defective gene, but are usually not affected by the disorder.

The prevalence of mutations associated with this condition reach 68% to 81% in certain arctic coastal populations, suggesting that the condition had some adaptive value in those habitats at some time.^[2]^[3]

References

^ Bennett, Michael; Stanley, Charles (2011-03-01). "Carnitine palmitoyl transferase 1A deficiency". Orphanet. Retrieved 2014-12-04.
^ Clemente, Florian; al., et. (2014-11-06). "A Selective Sweep on a Deleterious Mutation in CPT1A in Arctic Populations". AJHG. Retrieved 2015-02-22.
^ Greenberg, Cheryl; al., et. (2009-04-09). "The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations.". Molecular Genetics and Metabolism. Retrieved 2015-02-22.

External links

This article incorporates public domain text from The U.S. National Library of Medicine

GeneReviews/NCBI/NIH/UW entry on Carnitine Palmitoyltransferase 1A Deficiency

UpToDate Contents

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English Journal

Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response.

Vatanavicharn N1, Yamada K2, Aoyama Y3, Fukao T4, Densupsoontorn N5, Jirapinyo P5, Sathienkijkanchai A6, Yamaguchi S2, Wasant P6.
Brain & development.Brain Dev.2015 Aug;37(7):698-703. doi: 10.1016/j.braindev.2014.10.005. Epub 2014 Nov 1.
BACKGROUND: Mitochondrial fatty acid oxidation (FAO) disorders are among the causes of acute encephalopathy- or myopathy-like illness. Carnitine-acylcarnitine translocase (CACT) deficiency is a rare FAO disorder, which represent an energy production insufficiency during prolonged fasting, febrile il
PMID 25459972

Vitamin B12 and omega-3 fatty acids together regulate lipid metabolism in Wistar rats.

Khaire A1, Rathod R1, Kale A1, Joshi S2.
Prostaglandins, leukotrienes, and essential fatty acids.Prostaglandins Leukot Essent Fatty Acids.2015 Aug;99:7-17. doi: 10.1016/j.plefa.2015.04.006. Epub 2015 Apr 17.
Our recent study indicates that maternal vitamin B12 and omega-3 fatty acid status influence plasma and erythrocyte fatty acid profile in dams. The present study examines the effects of prenatal and postnatal vitamin B12 and omega-3 fatty acid status on lipid metabolism in the offspring. Pregnant da
PMID 26003565

The role of mitochondria in statin-induced myopathy.

Apostolopoulou M1,2, Corsini A3,4, Roden M1,2,5.
European journal of clinical investigation.Eur J Clin Invest.2015 Jul;45(7):745-54. doi: 10.1111/eci.12461. Epub 2015 Jun 15.
BACKGROUND: Statins inhibit hydroxymethylglutaryl-coenzyme A reductase, decrease plasma low-density lipoprotein cholesterol and reduce cardiovascular morbidity and mortality. They can also exert adverse effects, mostly affecting skeletal muscle, ranging from mild myalgia to rhabdomyolysis.MATERIALS
PMID 25991405

Japanese Journal

カルニチンパルミトイルトランスフェラーゼ2欠損症のろ紙血血清のアシルカルニチンプロファイルの経時的変化

久保田一生,深尾敏幸,堀友博,小林弘典,舩戸道徳,長谷川有紀,山口清次,近藤直実
日本小児科学会雑誌 115(5), 956-960, 2011-05-01
NAID 10029385674

脂肪肝を呈し日齢2に突然死したカルニチンパルミトイルトランスフェラーゼ2欠損症の1男児例

高野智子,仙波秀峰,田尻仁
日本小児栄養消化器肝臓学会雑誌 = Japanese journal of pediatric gastroenterology, hepatology and nutrition 25(1), 25-28, 2011-04-27
NAID 10029384369

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リンク元	「カルニチンパルミトイルトランスフェラーゼ欠損症」
関連記事	「deficiency」「carnitine palmitoyltransferase」「palmitoyltransferase」