GLUTARIC ACIDURIA TYPE-I - UNUSUAL BIOCHEMICAL PRESENTATION

被引：38

作者：

CAMPISTOL, J

RIBES, A

ALVAREZ, L

CHRISTENSEN, E

MILLINGTON, DS

机构：

[1] HOSP ST JOAN DEU, SERV BIOQUIM, BARCELONA, SPAIN

[2] DIPUTACIO BARCELONA, INST BIOQUIM CLIN, CERDANYOLA, SPAIN

[3] RIGSHOSP, METAB LAB, CLIN GENET SECT, DK-2100 COPENHAGEN, DENMARK

[4] DUKE UNIV, MED CTR, DEPT PEDIAT, DURHAM, NC 27710 USA

来源：

JOURNAL OF PEDIATRICS | 1992年 / 121卷 / 01期

关键词：

D O I：

10.1016/S0022-3476(05)82548-X

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We describe a patient with glutaryl-coenzyme A dehydrogenase deficiency, demonstrated by a residual enzyme activity of only 1% in cultured fibroblasts. Although the clinical presentation was typical of glutaric aciduria type I, the urine concentrations of glutaric, glutaconic, and 3-hydroxyglutaric acids remained normal, even during episodes of clinical decompensation. An increased free glutarate level was demonstrated only in cerebrospinal fluid.

引用

页码：83 / 86

页数：4

共 16 条

[1] GLUTARIC ACIDURIA TYPE-1 - ENZYMATIC AND NEURORADIOLOGIC INVESTIGATIONS OF 2 KINDREDS
AMIR, N
ELPELEG, ON
SHALEV, RS
CHRISTENSEN, E
[J]. JOURNAL OF PEDIATRICS, 1989, 114 (06) : 983 - 989
[2] AN X-LINKED MITOCHONDRIAL DISEASE AFFECTING CARDIAC-MUSCLE, SKELETAL-MUSCLE AND NEUTROPHIL LEUKOCYTES
BARTH, PG
SCHOLTE, HR
BERDEN, JA
VANDERKLEIVANMOORSEL, JM
LUYTHOUWEN, IEM
VANTVEERKORTHOF, ET
VANDERHARTEN, JJ
SOBOTKAPLOJHAR, MA
[J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 1983, 62 (1-3) : 327 - 355
[3] BERGMAN I, 1989, PEDIATRICS, V83, P228
[4] CT APPEARANCE OF LOW ATTENUATION AREAS IN BASAL GANGLIA IN CHILDHOOD - REPORT OF 23 CASES
CAMPISTOL, J
FERNANDEZALVAREZ, E
RUSCALLEDA, J
[J]. COMPUTERIZED RADIOLOGY, 1987, 11 (5-6): : 229 - 235
[5] IMPROVED ASSAY OF GLUTARYL-COA DEHYDROGENASE IN CULTURED-CELLS AND LIVER - APPLICATION TO GLUTARIC ACIDURIA TYPE-I
CHRISTENSEN, E
[J]. CLINICA CHIMICA ACTA, 1983, 129 (01) : 91 - 97
[6] VIGABATRIN IN THE TREATMENT OF GLUTARIC ACIDURIA TYPE-I
FRANCOIS, B
JAEKEN, J
GILLIS, P
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1990, 13 (03) : 352 - 354
[7] GLUTARIC ACIDEMIA AS A CAUSE OF STRIATAL NECROSIS IN CHILDHOOD
GOODMAN, SI
NORENBERG, MD
[J]. ANNALS OF NEUROLOGY, 1983, 13 (05) : 582 - 583
[8] GLUTARIC ACIDURIA - NEW DISORDER OF AMINO-ACID METABOLISM
GOODMAN, SI
MARKEY, SP
MOE, PG
MILES, BS
TENG, CC
[J]. BIOCHEMICAL MEDICINE, 1975, 12 (01): : 12 - 21
[9] GLUTARIC-ACIDURIA - CLINICAL AND LABORATORY FINDINGS IN 2 BROTHERS
GREGERSEN, N
BRANDT, NJ
CHRISTENSEN, E
GRON, I
RASMUSSEN, K
BRANDT, S
[J]. JOURNAL OF PEDIATRICS, 1977, 90 (05) : 740 - 745
[10] PHENOTYPIC VARIABILITY IN GLUTARIC ACIDURIA TYPE-1 - REPORT OF 14 CASES IN 5 CANADIAN INDIAN KINDREDS
HAWORTH, JC
BOOTH, FA
CHUDLEY, AE
DEGROOT, GW
DILLING, LA
GOODMAN, SI
GREENBERG, CR
MALLORY, CJ
MCCLARTY, BM
SESHIA, SS
SEARGEANT, LE
[J]. JOURNAL OF PEDIATRICS, 1991, 118 (01) : 52 - 58

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