WordNet

a polyvalent metallic element that resembles chromium and tungsten in its properties; used to strengthen and harden steel (同)Mo, atomic number 42
a substance (as a coenzyme) that must join with another to produce a given result

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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
モリブデン(金属元素;化学記号は『Mo』)

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/02/24 23:51:47」(JST)

wiki en

Molybdenum cofactor deficiency is a rare human disease in which the absence of molybdenum cofactor leads to accumulation of toxic levels of sulphite and neurological damage. Usually this leads to death within months of birth, due to the lack of active sulfite oxidase. Furthermore, a mutational block in molybdenum cofactor biosynthesis causes absence of enyzme activity of xanthine dehydrogenase/oxidase and aldehyde oxidase.

When caused by a mutation in the MOCS1 gene it is the type A variant. It can also be caused by a mutation in the MOCS2 gene or the GEPH gene.^[1] As of 2010, there had been approximately 132 reported cases.^[2]

It should not be confused with molybdenum deficiency.

Diagnosis[edit]

Diagnosis of Molybdenum cofactor deficiency includes early seizures, low blood levels of uric acid, and high levels of sulphite, xanthine, and uric acid in urine. Additionally, the disease produces characteristic MRI images that can aid in diagnosis.^[3]

Breakthrough[edit]

In 2009, Monash Children's Hospital at Southern Health in Melbourne, Australia reported that a patient known as Baby Z became the first person to be successfully treated for molybdenum cofactor deficiency type A. The patient was treated with cPMP, a precursor of the molybdenum cofactor.^[4]^[5] Baby Z will require daily injections of cyclic pyranopterin monophosphate (cPMP) for the rest of her life.^[6]

References[edit]

^ http://www.ncbi.nlm.nih.gov/pubmed/12754701 "Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH."
^ Ichida K, Aydin HI, Hosoyamada M, et al. (2006). "A Turkish case with molybdenum cofactor deficiency". Nucleosides Nucleotides Nucleic Acids 25 (9-11): 1087–91. doi:10.1080/15257770600894022. PMID 17065069.
^ http://www.imoa.info/HSE/environmental_data/biology/molybdenum_cofactor.html
^ McArthur, Grant (November 5, 2009). "Doctor cures 'Baby Z' of molybdenum cofactor deficiency in medical world first". news.com.au. Retrieved November 5, 2009.
^ Samantha Donovan (2009-11-05). "Dying baby cured in world first". abc.net.au/news (Australian Broadcasting Corporation). Retrieved 2009-11-05.
^ Tedmanson, Sophie (November 5, 2009). "Doctors risk untried drug to stop babys brain dissolving". The Times (London). Retrieved May 13, 2010.

UpToDate Contents

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1. 先天性代謝異常：個々の障害の発見 inborn errors of metabolism identifying the specific disorder
2. 食物中の微量ミネラルの概要 overview of dietary trace minerals
3. 先天性代謝異常：代謝性救急疾患 inborn errors of metabolism metabolic emergencies
4. ニッケル過敏症と冠動脈ステント nickel hypersensitivity and coronary artery stents
5. アレルギー性接触皮膚炎の一般的なアレルゲン common allergens in allergic contact dermatitis

English Journal

Inborn errors of purine metabolism: clinical update and therapies.

Balasubramaniam S1, Duley JA, Christodoulou J.
Journal of inherited metabolic disease.J Inherit Metab Dis.2014 Jun 28. [Epub ahead of print]
Inborn errors of purine metabolism exhibit broad neurological, immunological, haematological and renal manifestations. Limited awareness of the phenotypic spectrum, the recent descriptions of newer disorders and considerable genetic heterogeneity, have contributed to long diagnostic odysseys for aff
PMID 24972650

Cerebellar hypoplasia: differential diagnosis and diagnostic approach.

Poretti A, Boltshauser E, Doherty D.
American journal of medical genetics. Part C, Seminars in medical genetics.Am J Med Genet C Semin Med Genet.2014 Jun;166C(2):211-26. doi: 10.1002/ajmg.c.31398. Epub 2014 May 16.
Cerebellar hypoplasia (CH) refers to a cerebellum with a reduced volume, and is a common, but non-specific neuroimaging finding. The etiological spectrum of CH is wide and includes both primary (malformative) and secondary (disruptive) conditions. Primary conditions include chromosomal aberrations (
PMID 24839100

Determination of urinary alpha-aminoadipic semialdehyde by LC-MS/MS in patients with congenital metabolic diseases.

Ferrer-López I1, Ruiz-Sala P1, Merinero B1, Pérez-Cerdá C1, Ugarte M2.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.J Chromatogr B Analyt Technol Biomed Life Sci.2014 Jan 1;944:141-3. doi: 10.1016/j.jchromb.2013.10.032. Epub 2013 Nov 15.
This paper describes a full detailed high performance liquid chromatography/tandem mass spectrometry method for the identification and quantification of human urine alpha-aminoadipic semialdehyde, biomarker of pyridoxine-dependent epilepsy. The ionization mode of the electrospray interface was negat
PMID 24316525

Japanese Journal

セレンとモリブデンの生理機能と適切な摂取量の範囲(<特集>日本食品標準成分表(2010)に新たに収載されたビタミン・ミネラルの活用と課題)

吉田宗弘
ビタミン 86(10), 548-557, 2012-10-25
… The physiological functions of selenium and molybdenum and the range of their adequate intake have been described. … Molybdenum exists in three molybdoenzymes and functions as a cofactor for the enzymes. … Since a congenital deficiency of molybdoenzymes is fatal, molybdenum is assumed to be an essential trace element. … The range of adequate intake of molybdenum is estimated to be 25 to 1000 μg/day. …
NAID 110009544363

Molybdenum cofactor deficiency : Clinical features in a Turkish patient

PER Huseyin,GUMUS Hakan,ICHIDA Kimiyoshi,CAGLAYAN Okay,KUMANDAS Sefer
Brain & development 29(6), 365-368, 2007-07-01
NAID 10024136146

黒毛和種におけるウシモリブデン補酵素(MCSU)欠損症遺伝子型と産肉成績との関連性の解析

藤田達男,伊藤雅之,佐藤亘,倉原貴美,三宅武,志賀一穂,佐々木義之
動物遺伝育種研究 = The journal of animal genetics 32(1), 11-16, 2004-11-01
NAID 10014156174

「モリブデン補酵素欠損症」

Molybdenum cofactor deficiency
	Classification and external resources
OMIM	252150
DiseasesDB	29905
eMedicine	ped/2172

　　[★]

英: molybdenum cofactor deficiency
関: モリブデン

「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

[1] ttp://www.ncbi.nlm.nih.gov/pubmed/12754701 "Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH."

[pmid17065069-2] Ichida K, Aydin HI, Hosoyamada M, et al. (2006). "A Turkish case with molybdenum cofactor deficiency". Nucleosides Nucleotides Nucleic Acids 25 (9-11): 1087–91. doi:10.1080/15257770600894022. PMID 17065069.

[3] ttp://www.imoa.info/HSE/environmental_data/biology/molybdenum_cofactor.html

[news.com.au-4] McArthur, Grant (November 5, 2009). "Doctor cures 'Baby Z' of molybdenum cofactor deficiency in medical world first". news.com.au. Retrieved November 5, 2009.

[5] Samantha Donovan (2009-11-05). "Dying baby cured in world first". abc.net.au/news (Australian Broadcasting Corporation). Retrieved 2009-11-05.

[6] Tedmanson, Sophie (November 5, 2009). "Doctors risk untried drug to stop babys brain dissolving". The Times (London). Retrieved May 13, 2010.

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案内

molybdenum cofactor deficiency