multiple carboxylase deficiency

マルチプルカルボキシラーゼ欠損症、マルチプルカルボキシラーゼ欠損

WordNet

1. having or involving or consisting of more than one part or entity or individual; "multiple birth"; "multiple ownership"; "made multiple copies of the speech"; "his multiple achievements in public life"; "her multiple personalities"; "a pineapple is a multiple fruit"
2. the product of a quantity by an integer; "36 is a multiple of 9"

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
2. 多数の部分(要素)から成る,複合の,複式の / 倍数

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/05/21 02:48:24」(JST)

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Multiple carboxylase deficiency
Classification and external resources
MeSH	D009100

Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes.

The deficiency can be in biotinidase or holocarboxylase synthetase.

These conditions respond to biotin.

Forms include:

• Holocarboxylase synthetase deficiency - neonatal;
• Biotinidase deficiency - late onset;

If left untreated, the symptoms can include feeding problems, hypotonia, generalised erythematous rash with skin exfoliation and alopecia, failure to thrive, seizure, coma, developmental delay, foul smelling urine, metabolic acidosis, ketosis and hyperammonemia.

References

External links

• http://www.pmh.health.wa.gov.au/services/newborn/health_professionals/disorders/mcd_prof.htm

UpToDate Contents

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• 1. 有機酸血症 organic acidemias
• 2. 遺伝性運動失調の概要 overview of the hereditary ataxias
• 3. 水溶性ビタミンの概要 overview of water soluble vitamins
• 4. ミオクローヌスの分類および評価 classification and evaluation of myoclonus
• 5. 症候性（二次性）ミオクローヌス symptomatic secondary myoclonus

English Journal

• Brainstem and spinal cord lesions associated with skin changes and hearing loss: think of biotinidase deficiency.

• Cabasson S1, Rivera S1, Mesli S2, Dulubac E3.
• The Journal of pediatrics.J Pediatr.2015 Mar;166(3):771-1.e1. doi: 10.1016/j.jpeds.2014.11.023. Epub 2014 Dec 30.
• PMID 25556014

• Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.

• Jiang M, Liu L, Mei H, Li X, Cheng J, Cai Y.
• Journal of pediatric endocrinology & metabolism : JPEM.J Pediatr Endocrinol Metab.2015 Mar;28(3-4):375-80. doi: 10.1515/jpem-2014-0164.
• BACKGROUND: Inborn errors of metabolism (IEM) have been detected worldwide using gas chromatography mass spectrometry (GC-MS) since the 1980s, but few related reports exist on the incidence, spectrum, and clinical presentation features of IEM in southern China.METHOD: From January 2009 to March 2012
• PMID 25781538

• Severe neonatal holocarboxylase synthetase deficiency in west african siblings.

• De Castro M1, Zand DJ, Lichter-Konecki U, Kirmse B.
• JIMD reports.JIMD Rep.2015;20:1-4. doi: 10.1007/8904_2014_367. Epub 2015 Feb 18.
• In multiple carboxylase deficiency (MCD), the biotin-dependent carboxylases have decreased activity due to either biotinidase deficiency or holocarboxylase synthetase (HS) deficiency. We report the case of two siblings from Ghana, the first of which presented shortly after birth with profound lactic
• PMID 25690727

Japanese Journal

• Determination of 3-hydroxyisovalerylcarnitine and other acylcarnitine levels using liquid chromatography-tandem mass spectrometry in serum and urine of a patient with multiple carboxylase deficiency

• MAEDA Yasuhiro,ITO Tetsuya,OHMI Hironori,YOKOI Kyoko,NAKAJIMA Yoko,UETA Akihito,KURONO Yukihisa,TOGARI Hajime,SUGIYAMA Naruji
• Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 870(2), 154-159, 2008-07-15
• NAID 10028002937

• 牛乳蛋白アレルギー児に発症したアミノ酸調整粉末哺育によるビオチン欠乏症

• 真々田 容子,村田 敬寛,谷口 歩美,長谷川 有紀,鈴木 徹臣,幸田 恭子,那須野 聖人,渡邊 敏明,山口 清次,石黒 精
• アレルギー 57(5), 552-557, 2008-05-20
• アミノ酸調整粉末単独で哺育されていたため,ビオチン欠乏をきたした4ヵ月女児例を報告した.患児は生後2週に牛乳蛋白アレルギーと診断され,アミノ酸調整粉末治療により症状は改善した.治療開始の約3週間後に発症した皮膚のびらんは,眼周囲,口唇,頸部,臀部に認められ,軟膏などの局所治療で改善しなかった.血清ビオチン値の低下と尿中有機酸排泄の増加を認めたため,ビオチン欠乏によるマルチプルカルボキシラーゼ欠損症 …
• NAID 110006684410

Related Links

• Multiple Carboxylase Deficiency (Biotinidase deficiency ...

Multiple carboxylase deficiency is an uncommon metabolic disorder affecting 1 in 80,000 to 1 in 120,000 individuals. These enzyme deficiencies are inherited as autosomal recessive trait after the birth of an affected child, the ...

• Multiple carboxylase deficiency | Genetic and Rare Diseases ...

Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding.

• Multiple Carboxylase Deficiency - KDHE

Multiple Carboxylase Deficiency Information for Health Professionals Multiple carboxylase deficiency, or holocarboxylase synthetase deficiency, is an organic acid disorder caused by a reduction or lack of the enzyme ...

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★リンクテーブル★

リンク元	「アミノ酸代謝異常症」「マルチプルカルボキシラーゼ欠損」「マルチプルカルボキシラーゼ欠損症」
関連記事	「deficiency」「multiple」

「アミノ酸代謝異常症」

　　[★]

英

aminoacidopathy, disorder of aminoacid metabolism disorders of amino acid metabolism

同

アミノ酸代謝異常、先天性アミノ酸代謝異常症 先天性アミノ酸代謝異常 inborn error of amino acid metabolism

[show details]

アミノ酸代謝異常 : 約 16,700 件
アミノ酸代謝異常症 : 約 76,400 件

アミノ酸代謝異常症

国試で出たことが有るレベル

• フェニルケトン尿症
• ホモシスチン尿症
• メープルシロップ尿症
• ヒスチジン血症
• チロシン血症
• アルカプトン尿症
• シスチン尿症

• 白化 albinism
• アルカプトン尿症 alkaptonuria
• 非ケトーシス型高グリシン血症 nonketotic hyperglycinemia
• 高ホモシステイン血症 hyperhomocysteinemia
• 高リジン血症 hyperlysinemia
• メープルシロップ尿症 maple syrup urine disease
• 多種アシルCoA脱水素酵素欠損症 multiple acyl-coenzyme A dehydrogenase deficiency
• マルチプルカルボキシラーゼ欠損症 multiple carboxylase deficiency
• フェニルケトン尿症 phenylketonuria
• プロピオン酸血症 propionic acidemia
• チロシン血症 tyrosinemia
• 先天性尿素回路代謝異常 inborn urea cycle disorder

アミノ酸代謝異常で痙攣を呈さないもの

• チロシン血症、アルカプトン尿症、ヒスチジン血症

「マルチプルカルボキシラーゼ欠損」

　　[★]

英

multiple carboxylase deficiency

関

マルチプルカルボキシラーゼ欠損症

「マルチプルカルボキシラーゼ欠損症」

　　[★]

英

multiple carboxylase deficiency

関

マルチプルカルボキシラーゼ欠損

「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

　

「multiple」

　　[★]

• n.

• 倍数

• adj.

関

multifocality、multiplex、plural