VARIABILITY OF CLINICAL PRESENTATION IN FUMARATE HYDRATASE DEFICIENCY

被引：16
作者：
ELPELEG, ON
AMIR, N
CHRISTENSEN, E
机构：
[1] SHAARE ZEDEK MED CTR, NEUROPEDIAT UNIT, IL-91000 JERUSALEM, ISRAEL
[2] RIGSHOSP, METAB LAB, DK-2100 COPENHAGEN, DENMARK
来源：
JOURNAL OF PEDIATRICS | 1992年 / 121卷 / 05期
关键词：
D O I：
10.1016/S0022-3476(05)81910-9
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
A 5-year-old girl with a previous diagnosis of cerebral palsy, nonprogressive psychomotor retardation, and hypotonia was found to excrete excessive fumaric acid in urine. Fumarate hydratase activity in skin fibroblasts was 10% of the control value. This case underscores the clinical heterogeneity of neurometabolic disorders and the importance of organic acid analysis in the diagnosis of static encephalopathy.
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收藏
页码：752 / 754
页数：3
相关论文
共 13 条
  • [1] INTRACELLULAR-DISTRIBUTION OF FUMARASE IN VARIOUS ANIMALS
    AKIBA, T
    HIRAGA, K
    TUBOI, S
    [J]. JOURNAL OF BIOCHEMISTRY, 1984, 96 (01) : 189 - 195
  • [2] CHRISTENSEN E, 1987, P S SOC STUDY INBORN, P66
  • [3] CHRISTENSEN E, 1986, P ANN S SOC STUDY IN, P72
  • [4] FUMARASE DEFICIENCY IS AN AUTOSOMAL RECESSIVE ENCEPHALOPATHY AFFECTING BOTH THE MITOCHONDRIAL AND THE CYTOSOLIC ENZYMES
    GELLERA, C
    UZIEL, G
    RIMOLDI, M
    ZEVIANI, M
    LAVERDA, A
    CARRARA, F
    DIDONATO, S
    [J]. NEUROLOGY, 1990, 40 (03) : 495 - 499
  • [5] HATCH MD, 1978, ANAL BIOCHEM, V85, P271, DOI 10.1016/0003-2697(78)90299-3
  • [6] ADENYLOSUCCINASE DEFICIENCY - AN INBORN ERROR OF PURINE NUCLEOTIDE SYNTHESIS
    JAEKEN, J
    WADMAN, SK
    DURAN, M
    VANSPRANG, FJ
    BEEMER, FA
    HOLL, RA
    THEUNISSEN, PM
    DECOCK, P
    VANDENBERGH, F
    VINCENT, MF
    VANDENBERGHE, G
    [J]. EUROPEAN JOURNAL OF PEDIATRICS, 1988, 148 (02) : 126 - 131
  • [7] JAEKEN J, 1988, LANCET, V1, P500
  • [8] PETROVABENEDICT R, 1987, AM J HUM GENET, V40, P257
  • [9] SUZUKI T, 1989, J BIOL CHEM, V264, P2581
  • [10] TOLLEY E, 1975, BIOCH GENET, V13, P866
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