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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）』「2014/11/23 21:35:36」(JST)

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Beta-ketothiolase deficiency is a rare, autosomal recessive metabolic disorder in which the body cannot properly process the amino acid isoleucine or the products of lipid breakdown.

The typical age of onset for this disorder is between 6 months and 24 months.

Symptoms

The signs and symptoms of beta-ketothiolase deficiency include vomiting, dehydration, trouble breathing, extreme tiredness, and occasionally convulsions. These episodes are called ketoacidotic attacks and can sometimes lead to coma. Attacks occur when compounds called organic acids (which are formed as products of amino acid and fat breakdown) build up to toxic levels in the blood. These attacks are often triggered by an infection, fasting (not eating), or in some cases, other types of stress.

Genetic prevalence

This condition is inherited in an autosomal recessive pattern and is extremely rare having only been reported in 50 to 60 individuals throughout the world.

Beta-ketothiolase deficiency has an autosomal recessive pattern of inheritance.

Mutations in the ACAT1 gene cause beta-ketothiolase deficiency. The enzyme made by the ACAT1 gene plays an essential role in breaking down proteins and fats in the diet. Specifically, the enzyme is responsible for processing isoleucine, an amino acid that is part of many proteins. This enzyme also processes ketones, which are produced during the breakdown of fats. If a mutation in the ACAT1 gene reduces or eliminates the activity of this enzyme, the body is unable to process isoleucine and ketones properly. As a result, harmful compounds can build up and cause the blood to become too acidic (ketoacidosis), which impairs tissue function, especially in the central nervous system.

References

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

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English Journal

Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam.

Nguyen KN1, Abdelkreem E2,3, Colombo R4,5, Hasegawa Y6, Can NT1, Bui TP1, Le HT1, Tran MT1, Nguyen HT7, Trinh HT8, Aoyama Y2, Sasai H2, Yamaguchi S6, Fukao T9, Vu DC10.
Journal of inherited metabolic disease.J Inherit Metab Dis.2017 May;40(3):395-401. doi: 10.1007/s10545-017-0026-6. Epub 2017 Feb 20.
PMID 28220263

Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency.

Abdelkreem E1,2, Akella RR3, Dave U4, Sane S5, Otsuka H1, Sasai H1, Aoyama Y6, Nakama M7, Ohnishi H1, Mahmoud S2, Abd El Aal M2, Fukao T8,9.
JIMD reports.JIMD Rep.2016 Dec 8. [Epub ahead of print]
PMID 27928777

Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site.

Otsuka H1, Sasai H1, Nakama M2, Aoyama Y3, Abdelkreem E1, Ohnishi H1, Konstantopoulou V4, Sass JO5, Fukao T1.
Molecular medicine reports.Mol Med Rep.2016 Nov;14(5):4906-4910. doi: 10.3892/mmr.2016.5819. Epub 2016 Oct 10.
PMID 27748876

Japanese Journal

3-Ketothiolase deficiency : a review and four new patients with neurologic symptom

OZAND PT
Brain Dev 16(Suppl), 38-45, 1994
NAID 50005666354

Further Analysis of Mutant Thiolase Protein in Fibroblasts from a Japanese Boy with 3-Ketothiolase Deficiency.

YAMAGUCHI SEIJI,FUKAO TOSHIYUKI,KANO MASATSUGU,WAKAZONO AKIHIRO,ORII TADAO,SAKURA NOBUO,HASHIMOTO TAKASHI
The Tohoku Journal of Experimental Medicine 167(2), 143-153, 1992
… <i>from a Japanese Boy with 3-Ketothiolase Deficiency</i>. … (2), 143-153 -We examined the mutant protein of mitochondrial acetoacetyl-CoA thiolase (mutant T2) in fibroblasts from a Japanese boy with 3-ketothiolase deficiency. …
NAID 130003494453