Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity

被引：0
|
作者：
Pineda, M
Ribes, A
Busquets, C
Vilaseca, MA
Aracil, A
Christensen, E
机构：
[1] Hosp Clin St Joan Deu, Unitat Integrada, Barcelona, Spain
[2] Corp Sanitaria, Inst Bioquim Clin, Barcelona, Spain
[3] Rigshosp, Dept Clin Genet, DK-2100 Copenhagen, Denmark
来源：
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY | 1998年 / 40卷 / 12期
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Two brothers with dystonia and slight MRI changes in the basal ganglia had normal urinary glutaric acid excretion, but slightly increased 3-hydroxyglutarate and conjugated glutarate excretions. Both siblings have high residual glutaryl-CoA dehydrogenase activity, and are compound heterozygotes for two mutations - R227P and V400M - reported to be disease-causing in patients with glutaric aciduria type I.
引用
收藏
页码：840 / 842
页数：3
相关论文
共 50 条
  • [1] Neuroradiological findings in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency)
    Neumaier-Probst, E
    Harting, I
    Seitz, A
    Ding, C
    Kölker, S
    JOURNAL OF INHERITED METABOLIC DISEASE, 2004, 27 (06) : 869 - 876
  • [2] GLUTARIC ACIDURIA - INHERITED DEFICIENCY OF GLUTARYL-COA DEHYDROGENASE-ACTIVITY
    GOODMAN, SI
    KOHLHOFF, JG
    BIOCHEMICAL MEDICINE, 1975, 13 (02): : 138 - 140
  • [3] GLUTARYL-COA DEHYDROGENASE-DEFICIENCY IN GLUTARIC ACIDURIA
    GOODMAN, SI
    MARKEY, SP
    MOE, PG
    STOKKE, O
    CLINICAL RESEARCH, 1975, 23 (02): : A146 - A146
  • [4] Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity:: A novel mutation in a Turkish patient with glutaric aciduria type I
    Mühlhausen, C
    Christensen, E
    Schwartz, M
    Muschol, N
    Ullrich, K
    Lukacs, Z
    JOURNAL OF INHERITED METABOLIC DISEASE, 2003, 26 (07) : 713 - 714
  • [5] Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)
    Koelker, S.
    Christensen, E.
    Leonard, J. V.
    Greenberg, C. R.
    Burlina, A. B.
    Burlina, A. P.
    Dixon, M.
    Duran, M.
    Goodman, S. I.
    Koeller, D. M.
    Mueller, E.
    Naughten, E. R.
    Neumaier-Probst, E.
    Okun, J. G.
    Kyllerman, M.
    Surtees, R. A.
    Wilcken, B.
    Hoffmann, G. F.
    Burgard, P.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 (01) : 5 - 22
  • [6] Teaching NeuroImages: Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency)
    Singh, Paramdeep
    Goraya, Jatinder Singh
    Ahluwalia, Archana
    Saggar, Kavita
    NEUROLOGY, 2011, 77 (01) : E6 - E6
  • [7] Glutaconyl-CoA is the main toxic agent in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)
    Lehnert, W
    Sass, JO
    MEDICAL HYPOTHESES, 2005, 65 (02) : 330 - 333
  • [8] KETOTIC EPISODES IN GLUTARYL-COA DEHYDROGENASE-DEFICIENCY (GLUTARIC ACIDURIA)
    GREGERSEN, N
    BRANDT, NJ
    PEDIATRIC RESEARCH, 1979, 13 (09) : 977 - 981
  • [9] Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I
    Ikeda, H
    Kimura, T
    Ikegami, T
    Kato, M
    Matsunaga, A
    Yokoyama, S
    Yamaguchi, S
    Ohura, T
    Hayasaka, K
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1998, 80 (04): : 327 - 329
  • [10] Glutaric aciduria type 1:: Synthesis, enzymatic activity, stability, and oligomerisation of mutant glutaryl-CoA dehydrogenase
    Muehlhausen, C.
    Keyser, B.
    Dickmanns, A.
    Christensen, E.
    Ullrich, K.
    Braulke, T.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2008, 31 : 24 - 24
12345