GALT deficiency

ガラクトース-1-リン酸ウリジルトランスフェラーゼ欠損症

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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. General Admiral / (またGa)Georgia

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• 1. ガラクトース血症：臨床的特徴および診断 galactosemia clinical features and diagnosis
• 2. 幼児および小児における低血糖症の病因 etiology of hypoglycemia in infants and children
• 3. ガラクトース血症：マネージメントおよび転帰 galactosemia management and outcome

English Journal

• Detection of common mutations in the GALT gene through ARMS.

• Mahmood U, Imran M, Naik SI, Cheema HA, Saeed A, Arshad M, Mahmood S.SourceDepartment of Biochemistry, University of Health Sciences (UHS), Khayaban-e-Jamia Punjab, Lahore 54600, Pakistan.
• Gene.Gene.2012 Nov 10;509(2):291-4. doi: 10.1016/j.gene.2012.08.010. Epub 2012 Aug 16.
• Type I galactosemia is an inborn error resulting from mutations on both alleles of the GALT gene, which leads to the absence or deficiency of galactose-1-phosphate uridyltranseferase (GALT), the second of three enzymes catalyzing the conversion of galactose into glucose. On the basis of residual GAL
• PMID 22963887

• Mediators of a long-term movement abnormality in a Drosophila melanogaster model of classic galactosemia.

• Ryan EL, DuBoff B, Feany MB, Fridovich-Keil JL.SourceGraduate Program in Biochemistry, Cell, and Developmental Biology, Emory University, Atlanta, GA 30322, USA.
• Disease models & mechanisms.Dis Model Mech.2012 Nov;5(6):796-803. doi: 10.1242/dmm.009050. Epub 2012 Jun 26.
• Despite neonatal diagnosis and life-long dietary restriction of galactose, many patients with classic galactosemia grow to experience significant long-term complications. Among the more common are speech, cognitive, behavioral, ovarian and neurological/movement difficulties. Despite decades of resea
• PMID 22736462

• Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.

• Boutron A, Marabotti A, Facchiano A, Cheillan D, Zater M, Oliveira C, Costa C, Labrune P, Brivet M; French Galactosemia Working Group.Collaborators (37)Loisel N, Morin G, Barth M, Altuzarra C, Mesli S, Rigalleau V, Rhead MH, de Schrevel G, Thauvin-Robinet C, Santos A, Dobbelaere D, Mention K, Guffon N, Cano A, Feillet F, Krempf P, Pitelet G, Bernard O, Hermeziu B, Gonzalez E, Habes D, Jacquemin E, de Baulny H, Roche S, Debray D, de Lonlay P, Servais A, Touati G, Bednarek N, Garnotel R, Devaux AM, Gay C, Eyer D, Baruteau J, Broué P, Labarthe F, Maillot F.
• Molecular genetics and metabolism.Mol Genet Metab.2012 Nov;107(3):438-47. doi: 10.1016/j.ymgme.2012.07.025. Epub 2012 Aug 6.
• BACKGROUND: Classic galactosemia refers to galactose-1-phosphate uridyltransferase (GALT) deficiency and is characterized by long-term complications of unknown mechanism and high allelic heterogeneity of GALT gene.AIM: To report molecular characterization of GALT variations in 210 French families, t
• PMID 22944367

Japanese Journal

• Alymphoplasia mice are resistant to prion infection via oral route

• Horiuchi Motohiro,Furuoka Hidefumi,Kitamura Nobuo,Shinagawa Morikazu
• Japanese Journal of Veterinary Research 53(3-4), 149-157, 2006-02-28
• … To elucidatethe initial entry port for prion, we inoculated prion to alymphoplasia (aly )mice showing a deficiency in systemic lymph nodes and Peyer’s patches. … These resultsindicate that GALT rather than ENS acts as the primary entry port for prionafter oral exposure.１）Laboratory of Prion Diseases, Graduate …
• NAID 120000953470

Related Links

• Galactose-1-phosphate uridylyltransferase deficiency - Wikipedia ...

Galactose-1-phosphate uridylyltransferase deficiency, also called galactosemia type 1, classic galactosemia or GALT deficiency, is the most common type of galactosemia, an inborn error of galactose metabolism, caused by a deficiency of the ...

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★リンクテーブル★

リンク元	「ガラクトース-1-リン酸ウリジルトランスフェラーゼ欠損症」
関連記事	「deficiency」「GALT」「GA」

「ガラクトース-1-リン酸ウリジルトランスフェラーゼ欠損症」

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英

galactose-1-phosphate uridyl transferase deficiency

同

GALT欠損症 GALT deficiency、galactose-1-phosphate uridyl transferase欠損症

関

ガラクトース血症

概念

• ガラクトース-1-リン酸ウリジルトランスフェラーゼの欠損により、血中にガラクトースがたまることにより身体の臓器に障害を及ぼす疾患

病因

• 血中にガラクトースやガラクトース1-リン酸が蓄積することによる。

• ガラクトース-1-リン酸ウリジルトランスフェラーゼ：ガラクトース-1-リン酸→UDPガラクトース

• たとえば、水晶体にガラクトースが蓄積し、これが還元されたガラクチトールとなる。この物質が水晶体を曇らせ白内障を来す。

症状

• 嘔吐、下痢、黄疸、白内障、敗血症

「deficiency」

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• 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

　

「GALT」

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• 腸管関連リンパ組織, gut-associated lymphoid tissue
• ガラクトース-1-リン酸ウリジルトランスフェラーゼ, galactose-1-phosphate uridyl transferase

「GA」

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• グリコアルブミン glycosylated albumin