1-13C-Propionate Oxidation as a Measure of Methylmalonyl-CoA Mutase (MUT) Activity in Methylmalonic Acidemia

被引：0
|
作者：
Gagne, Jack [1 ]
Manoli, Irini [1 ]
Harrington, Elizabeth [1 ]
Smyth, Sarah [2 ]
Hattenbach, Jacob D. [2 ]
Sloan, Jennifer L. [1 ]
Chen, Kong Y. [2 ]
Venditti, Charles P. [1 ]
机构：
[1] NHGRI, Med Genom & Metab Genet Branch, Bethesda, MD 20892 USA
[2] NIDDK, Clin Endocrinol Branch, Bethesda, MD 20892 USA
来源：
MOLECULAR THERAPY | 2016年 / 24卷
关键词：
D O I：
10.1016/S1525-0016(16)33162-8
中图分类号：
Q81 [生物工程学（生物技术）]; Q93 [微生物学];
学科分类号：
071005 ; 0836 ; 090102 ; 100705 ;
摘要：
353
引用
收藏
页码：S141 / S141
页数：1
相关论文
共 32 条
  • [1] METHYLMALONYL-COA MUTASE ACTIVITY OF LEUKOCYTES IN VARIANTS AND HETEROZYGOTES OF METHYLMALONIC ACIDEMIA
    NARISAWA, K
    SAITO, T
    HISA, S
    SUZUKI, H
    HAYASAKA, K
    ARAKAWA, T
    KONNO, K
    TSUCHIDA, S
    TSUCHIYA, Y
    TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 1977, 123 (01): : 1 - 8
  • [2] MUTATION ELIMINATING MITOCHONDRIAL LEADER SEQUENCE OF METHYLMALONYL-COA MUTASE CAUSES MUT METHYLMALONIC ACIDEMIA
    LEDLEY, FD
    JANSEN, R
    NHAM, SU
    FENTON, WA
    ROSENBERG, LE
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1990, 87 (08) : 3147 - 3150
  • [3] HETEROGENEOUS ALLELES AND EXPRESSION OF METHYLMALONYL COA MUTASE IN MUT METHYLMALONIC ACIDEMIA
    LEDLEY, FD
    CRANE, AM
    LUMETTA, M
    AMERICAN JOURNAL OF HUMAN GENETICS, 1990, 46 (03) : 539 - 547
  • [4] CLUSTERING OF MUTATIONS IN METHYLMALONYL COA MUTASE ASSOCIATED WITH MUT(-) METHYLMALONIC ACIDEMIA
    CRANE, AM
    LEDLEY, FD
    AMERICAN JOURNAL OF HUMAN GENETICS, 1994, 55 (01) : 42 - 50
  • [5] Methylmalonyl-CoA mutase gene mutations in Japanese patients with methylmalonic acidemia
    Oyama, C.
    Narita, A.
    Noguchi, A.
    Oyamada, M.
    Takahashi, T.
    Takada, G.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 : 106 - 106
  • [6] Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl
    Oyama, Chikako
    Takahashi, Tsutomu
    Matsumori, Mika
    Shoji, Yutaka
    Tajima, Gou
    Sakura, Nobuo
    Hasegawa, Yuki
    Yamaguchi, Seiji
    Kakinuma, Hiroaki
    Takada, Goro
    PEDIATRICS INTERNATIONAL, 2007, 49 (02) : 232 - 234
  • [7] Mutation analysis of the methylmalonyl-CoA mutase gene in ten Mexican patients with methylmalonic acidemia
    Teresa Mendez, Sara
    Vela-Amieva, Marcela
    Velazquez-Arellano, Antonio
    Ibarra, Isabel
    Elena Flores, Maria
    REVISTA DE INVESTIGACION CLINICA-CLINICAL AND TRANSLATIONAL INVESTIGATION, 2012, 64 (03): : 255 - 261
  • [8] Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut° and mut- forms of methylmalonic acidemia:: Identification the MUT gene
    Acquaviva, C
    Benoist, JF
    Pereira, S
    Callebaut, I
    Koskas, T
    Porquet, D
    Elion, J
    HUMAN MUTATION, 2005, 25 (02) : 167 - 176
  • [9] Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia
    Sawangareetrakul, Phannee
    Ketudat Cairns, James R.
    Vatanavicharn, Nithiwat
    Liammongkolkul, Somporn
    Wasant, Pornswan
    Svasti, Jisnuson
    Champattanachai, Voraratt
    BIOCHEMICAL GENETICS, 2015, 53 (11-12) : 310 - 318
  • [10] SYSTEMATIC LITERATURE REVIEW ON THE WORLDWIDE EPIDEMIOLOGY OF METHYLMALONIC ACIDEMIA WITH A FOCUS ON METHYLMALONYL-COA MUTASE DEFICIENCY
    Almasi, T.
    Guey, L.
    Lukacs, C.
    Csetneki, K.
    Voko, Z.
    Zelei, T.
    VALUE IN HEALTH, 2018, 21 : S441 - S441
1234