holocarboxylase synthetase deficiency

同

HCS

PrepTutorEJDIC

1. 〈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

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2018/01/25 22:09:00」(JST)

wiki en

[Wiki en表示]

Holocarboxylase synthetase deficiency
Biotin
Classification and external resources
ICD-10	E53.8
OMIM	253270
DiseasesDB	32709
eMedicine	ped/1020
MeSH	D028922
Orphanet	79242

Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of certain enzymes that depend on biotin. Symptoms are very similar to biotinidase deficiency and treatment – large doses of biotin – is also the same.

Genetics

Holocarboxylase synthetase deficiency has an autosomal recessive pattern of inheritance.

Mutations in the HLCS gene cause holocarboxylase synthetase deficiency. The HLCS gene makes an enzyme, holocarboxylase synthetase, that attaches biotin to other molecules. Biotin, a B vitamin, is found in foods such as liver, egg yolks, and milk. It is essential for the normal production and breakdown of proteins, fats, and carbohydrates in the body. Mutations in the HLCS gene reduce the activity of holocarboxylase synthetase, preventing cells from using biotin effectively and disrupting many cellular functions.

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered.

Diagnosis

The signs and symptoms of holocarboxylase synthetase deficiency typically appear within the first few months of life, but the age of onset varies. Affected infants often have immunodeficiency diseases, difficulty feeding, breathing problems, a skin rash, hair loss (alopecia), and a lack of energy (lethargy). Immediate treatment and lifelong management (using biotin supplements) may prevent many of these complications. If left untreated, the disorder can lead to delayed development, seizures, and coma. These medical problems may be life-threatening in some cases.

See also

• List of cutaneous conditions

References

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

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. ヘキソースリン酸側路およびグルタチオン代謝疾患（グルコース-6-リン酸脱水素酵素欠損症を除く） disorders of the hexose monophosphate shunt and glutathione metabolism other than glucose 6 phosphate dehydrogenase deficiency
• 2. 水溶性ビタミンの概要 overview of water soluble vitamins
• 3. 免疫不全症を引き起こすミエロペルオキシダーゼ欠損症および酵素白血球欠損症 myeloperoxidase deficiency and other enzymatic wbc defects causing immunodeficiency
• 4. 成人における抗癌剤の投与 dosing of anticancer agents in adults
• 5. Complementary and alternative treatments for anxiety symptoms and disorders: Herbs and medications

English Journal

• A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency.

• Mayende L, Swift RD, Bailey LM, Soares da Costa TP, Wallace JC, Booker GW, Polyak SW.SourceSchool of Molecular and Biomedical Science, University of Adelaide, Adelaide, South Australia, 5005, Australia.
• Journal of molecular medicine (Berlin, Germany).J Mol Med (Berl).2012 Jan;90(1):81-8. Epub 2011 Sep 6.
• Biotin (vitamins H and B7) is an important micronutrient as defects in its availability, metabolism or adsorption can cause serious illnesses, especially in the young. A key molecule in the biotin cycle is holocarboxylase synthetase (HLCS), which attaches biotin onto the biotin-dependent enzymes. Pa
• PMID 21894551

• The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient.

• Hui J, Law E, Chung C, Fung S, Yuen P, Tang N.SourceDepartment of Pediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China, joanniehui@cuhk.edu.hk.
• World journal of pediatrics : WJP.World J Pediatr.2011 Aug 27. [Epub ahead of print]
• BACKGROUND: Holocarboxylase synthetase deficiency is an inborn error of biotin metabolism leading to multiple carboxylase deficiency which is often biotin responsive. This disease is believed to be relatively common among the Asian population.METHODS: A 6-year-old Vietnamese boy presented with recur
• PMID 21874615

• Biotin requirements for DNA damage prevention.

• Zempleni J, Teixeira DC, Kuroishi T, Cordonier EL, Baier S.SourceDepartment of Nutrition and Health Sciences, University of Nebraska-Lincoln, 316 Ruth Leverton Hall, Lincoln, NE 68583-0806, USA.
• Mutation research.Mutat Res.2011 Aug 17. [Epub ahead of print]
• Biotin serves as a covalently bound coenzyme in five human carboxylases; biotin is also attached to histones H2A, H3, and H4, although the abundance of biotinylated histones is low. Biotinylation of both carboxylases and histones is catalyzed by holocarboxylase synthetase. Human biotin requirements
• PMID 21871906

Japanese Journal

• ビオチンと臨床(<特集>第65回大会シンポジウム「臨床とビタミンUp-Date」)

• ビタミン 88(1), 31-35, 2014-01-25
• NAID 110009767430

• 栄養性ビオチン欠乏症と先天性ビオチン代謝異常症の疫学

• ビタミン 86(9), 499-507, 2012-09-25
• NAID 110009518113

• A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy

• Brain & development 31(10), 775-778, 2009-11-01
• NAID 10026413104

Related Links

• holocarboxylase synthetase deficiency - Genetics Home ...

Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by ...

• Holocarboxylase Synthetase Deficiency: Background ...

Holocarboxylase synthetase (HCS) deficiency was defined as a distinct genetic disorder several years after its initial clinical description, similar to the discovery of propionic acidemia. From 1970-1973, only 3 clinically ...

Related Pictures

---

★リンクテーブル★

リンク元	「ホロカルボキシラーゼ合成酵素欠損症」
関連記事	「deficiency」「synthetase」「holocarboxylase」

「ホロカルボキシラーゼ合成酵素欠損症」

　　[★]

英

holocarboxylase synthetase deficiency

「deficiency」

　　[★]

• 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

　

「synthetase」

　　[★]

• n.

• (ATPやNADを必要とする2分子連結酵素リガーゼの別名)シンテターゼ、シンセターゼ、連結酵素、合成酵素

関

ligase、synthase

「holocarboxylase」

　　[★]

ホロカルボキシラーゼ