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1. ビタミンB12および葉酸欠乏症の診断および治療 diagnosis and treatment of vitamin b12 and folate deficiency
2. 有機酸血症 organic acidemias
3. 先天性代謝異常：代謝性救急疾患 inborn errors of metabolism metabolic emergencies
4. 銅欠乏性脊髄神経障害 copper deficiency myeloneuropathy
5. 疾患予防におけるビタミン補給 vitamin supplementation in disease prevention

English Journal

[Analysis of MUT gene mutations in a patient with isolated methylmalonic acidemia].

Chen Z1, Zhang X, Huang J, Wen P, Wang G, Tang G, Zu Y, Chen X, Cui D, Zhang M, Qi Z, Li C.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.Zhonghua Yi Xue Yi Chuan Xue Za Zhi.2015 Apr 10;32(2):218-221.
OBJECTIVE: To analyze the clinical features and mutation of MUT gene in a Chinese patient with isolated methylmalonic acidemia.METHODS: The clinical characteristics and laboratory tests data were collected. Genomic DNA was extracted from peripheral blood leukocytes. The 13 exons and their flanking s
PMID 25863090

Edwards TE1, Baugh L, Bullen J, Baydo RO, Witte P, Thompkins K, Phan IQ, Abendroth J, Clifton MC, Sankaran B, Van Voorhis WC, Myler PJ, Staker BL, Grundner C, Lorimer DD.
Journal of structural and functional genomics.J Struct Funct Genomics.2015 Apr 2. [Epub ahead of print]
The methylmalonyl Co-A mutase-associated GTPase MeaB from Methylobacterium extorquens is involved in glyoxylate regulation and required for growth. In humans, mutations in the homolog methylmalonic aciduria associated protein (MMAA) cause methylmalonic aciduria, which is often fatal. The central rol
PMID 25832174

An LC-MS/MS method for serum methylmalonic acid suitable for monitoring vitamin B12 status in population surveys.

Mineva EM1, Zhang M, Rabinowitz DJ, Phinney KW, Pfeiffer CM.
Analytical and bioanalytical chemistry.Anal Bioanal Chem.2015 Apr;407(11):2955-64. doi: 10.1007/s00216-014-8148-2. Epub 2014 Sep 26.
Methylmalonic acid (MMA), a functional indicator of vitamin B12 insufficiency, was measured in the US population in the National Health and Nutrition Examination Survey (NHANES) from 1999 to 2004 using a GC/MS procedure that required 275 μL of sample and had a low throughput (36 samples/run). Our
PMID 25258283

The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine

島田姿野,舟塚真,中陣瑠美,平野嘉子,伊藤進,吉井啓介,石垣景子,大澤真木子,SHIMADA Shino,FUNATSUKA Makoto,NAKAJIN Rumi,HIRANO Yoshiko,ITO Susumu,YOSHII Keisuke,ISHIGAKI Keiko,OSAWA Makiko
東京女子医科大学雑誌 83(E1), E307-E312, 2013-01-31
メチオニン、ホモシステインはDNAメチル化において重要な働きを担い、メチル基転移反応の中心的な役割を担う。脳は遺伝子の厳密な調整を必要とする臓器でありDNAメチル化により遺伝子発現調節を行う。故にメチル基転移機構の異常はしばしば重篤な神経疾患を引き起こしうる。今回、アミノ酸代謝異常による再メチル化障害により急激な退行を来たし、ベタイン食事療法により神経症状の改善を認めた一例につき報告した。症例は9 …
NAID 110009559396