mevalonate kinase deficiency

メバロン酸キナーゼ欠損症

WordNet

1. an enzyme that catalyzes the conversion of a proenzyme to an active enzyme
2. the basic unit of money in Papua New Guinea

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）』「2013/05/10 20:52:35」(JST)

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Mevalonate kinase deficiency
Classification and external resources
A patient with mevalonate kinase deficiency at the age of 21 months, displaying characteristic craniofacial features.
OMIM	251170
DiseasesDB	29843
MeSH	D054078

Mevalonate kinase deficiency, also called mevalonic aciduria, is an autosomal recessive metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids.

Diagnosis

Mevalonate kinase deficiency causes an accumulation of mevalonic acid in the urine, resulting from insufficient activity of the enzyme mevalonate kinase (ATP:mevalonate 5-phosphotransferase; EC 2.7.1.36).

Mevalonate pathway

The disorder was first described in 1985.

Classified as an inborn error of metabolism, mevalonate kinase deficiency usually results in developmental delay, hypotonia, anemia, hepatosplenomegaly, various dysmorphic features, mental retardation, an overall failure to thrive and several other features.

Mevalonate kinase deficiency has an autosomal recessive pattern of inheritance.

Additional images

• Mevalonic acid

See also

• Hyper-IgD syndrome

External links

• Mevalonate kinase deficiency
• Mevalonic aciduria at NIH's Office of Rare Diseases

References

UpToDate Contents

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• 1. 高IgD症候群：臨床症状および診断 hyperimmunoglobulin d syndrome clinical manifestations and diagnosis
• 2. 高IgD症候群：病態生理 hyperimmunoglobulin d syndrome pathophysiology
• 3. 高IgD症候群：管理 hyperimmunoglobulin d syndrome management
• 4. ペルオキシソーム病 peroxisomal disorders

English Journal

• Mutations in the Mevalonate Kinase (MVK) Gene Cause Nonsyndromic Retinitis Pigmentosa.

• Siemiatkowska AM, Ingeborgh van den Born L, Martin van Hagen P, Stoffels M, Neveling K, Henkes A, Kipping-Geertsema M, Hoefsloot LH, Hoyng CB, Simon A, den Hollander AI, Cremers FP, Collin RW.SourceDepartment of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
• Ophthalmology.Ophthalmology.2013 Sep 28. pii: S0161-6420(13)00692-1. doi: 10.1016/j.ophtha.2013.07.052. [Epub ahead of print]
• OBJECTIVE: Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous disorder characterized by night blindness and peripheral vision loss, and in many cases leads to blindness. Despite extensive knowledge about genes involved in the pathogenesis of RP, the genetic cause remains elusive
• PMID 24084495

• Validation of the Auto-Inflammatory Diseases Activity Index (AIDAI) for hereditary recurrent fever syndromes.

• Piram M, Koné-Paut I, Lachmann HJ, Frenkel J, Ozen S, Kuemmerle-Deschner J, Stojanov S, Simon A, Finetti M, Sormani MP, Martini A, Gattorno M, Ruperto N; on the behalf of EUROFEVER, EUROTRAPS and the Paediatric Rheumatology International Trials Organisation (PRINTO) networks.SourceService de Pédiatrie Générale et Rhumatologie pédiatrique, Centre de référence des maladies auto-inflammatoires de l'enfant (CeRéMAI), CHU de Bicêtre, APHP, Université Paris Sud, Le Kremlin Bicêtre, France.
• Annals of the rheumatic diseases.Ann Rheum Dis.2013 Sep 11. doi: 10.1136/annrheumdis-2013-203666. [Epub ahead of print]
• OBJECTIVES: To validate the Auto-Inflammatory Diseases Activity Index (AIDAI) in the four major hereditary recurrent fever syndromes (HRFs): familial Mediterranean fever (FMF), mevalonate kinase deficiency (MKD), tumour necrosis factor receptor-associated periodic syndrome (TRAPS) and cryopyrin-asso
• PMID 24026675

• Vaccinations in juvenile chronic inflammatory diseases: an update.

• Silva CA, Aikawa NE, Bonfa E.SourcePediatric Rheumatology Unit, Instituto da Criança, Faculty of Medicine, University of São Paulo, Avenida Dr. Eneas de Carvalho Aguiar 647, Cerqueira Cesar, São Paulo, SP, Brazil. clovis.silva@ hc.fm.usp.br
• Nature reviews. Rheumatology.Nat Rev Rheumatol.2013 Sep;9(9):532-43. doi: 10.1038/nrrheum.2013.95. Epub 2013 Jul 2.
• Vaccination is a powerful tool to reduce the burden of infectious diseases in paediatric patients with chronic rheumatic diseases. Live attenuated vaccines are not recommended for profoundly immunosuppressed patients, but nonlive vaccines have adequate safety and efficacy profiles in the few (admitt
• PMID 23820860

Japanese Journal

• Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation

• TAHARA Masahiro,SAKAI Hidemasa,NISHIKOMORI Ryuta,YASUMI Takahiro,HEIKE Toshio,NAGATA Ikuo,INUI Ayano,FUJISAWA Tomoo,SHIGEMATSU Yosuke,NISHIJIMA Koji,KUWAKADO Katsuji,WATABE Shinichi,KAMEYAMA Junji
• Modern rheumatology 21(6), 641-645, 2011-12-01
• NAID 10030206205

• 日本における高IgD症候群の診断と展望

• 酒井 秀政,平家 俊男
• 日本臨床免疫学会会誌 = Japanese journal of clinical immunology 34(5), 382-387, 2011-10-31
•   高IgD症候群は，乳児期早期に炎症反応高値の不明熱疾患として発症する自己炎症性疾患である．その原因はコレステロール代謝に関わるメバロン酸キナーゼの欠乏であることから，体内の多くの細胞がその欠乏を共有することになり，その臨床像は他の自己炎症性疾患と比して多様である．しかしながら，腹部症状や皮疹，関節炎などといった多くの症状は他の自己炎症性疾患群と共通のものであることから，臨床の場で即座に診断する …
• NAID 10029898019

• 高IgD症候群のMVK遺伝子異常と新しい治療法の導入

• 成戸 卓也
• 日本臨床免疫学会会誌 = Japanese journal of clinical immunology 30(2), 86-89, 2007-04-28
•   高 IgD 症候群（HIDS；OMIM 260920）は周期的に繰り返される発熱を特徴とする遺伝性疾患群の中のひとつである．HIDSはオランダ人に多く発症し，乳幼期よりの繰り返す発熱を主訴とする疾患である．遺伝形式としては常染色体劣性遺伝をとり，その責任遺伝子はメバロン酸尿症（OMIM 251170）の原因遺伝子でもあるメバロン酸キナーゼ（MK）である．検査データでは有熱期に尿中メバロン酸排泄 …
• NAID 10019495258

Related Links

• Mevalonate kinase deficiency - Genetics Home Reference

Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals.

• Mevalonate kinase deficiency - Wikipedia, the free encyclopedia

Classified as an inborn error of metabolism, mevalonate kinase deficiency usually results in developmental delay, hypotonia, anemia, hepatosplenomegaly, various dysmorphic features, mental retardation, an overall failure to thrive and ...

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★リンクテーブル★

リンク元	「メバロン酸キナーゼ欠損症」
関連記事	「deficiency」「kinase」「mevalonate」

「メバロン酸キナーゼ欠損症」

　　[★]

英

mevalonate kinase 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

　

「kinase」

　　[★] キナーゼ カイネース リン酸化酵素 phosphoenzyme phosphotransferase 　

「mevalonate」

　　[★]

メバロン酸

関

mevalonic acid

• mevalonic acid