GLUTARIC ACIDURIA TYPE-I - A NEW CASE-REPORT

被引：0
|
作者：
YACOUB, M
TABARKI, B
SALEM, N
HASSEN, A
ABROUG, S
HARBI, A
ESSOUSSI, AS
机构：
来源：
ANNALES DE PEDIATRIE | 1994年 / 41卷 / 03期
关键词：
GLUTARIC ACIDURIA TYPE-I; COMPUTED TOMOGRAPHY; TREATMENT;
D O I：
暂无
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
The case of a ten month old girl with glutaric aciduria type I is reported. Paroxysmic dystonia, opisthotonos, athetosis, and mental deterioration were the presenting manifestations. Chromatography of urinary organic acids showed a markedly increased level of glutaric acid. The clinical, biochemical, and neuroradiologic features of glutaric acid type I are reviewed. Treatment and antenatal diagnosis are discussed.
引用
收藏
页码：185 / 187
页数：3
相关论文
共 50 条
  • [21] CT-SCAN FINDINGS IN AN INFANT WITH GLUTARIC ACIDURIA TYPE-I
    YAGER, JY
    MCCLARTY, BM
    SESHIA, SS
    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 1988, 30 (06): : 808 - 820
  • [22] GLUTARIC ACIDURIA TYPE-I - BRAIN CT FEATURES AND A DIAGNOSTIC PITFALL
    MANDEL, H
    BRAUN, J
    ELPELEG, O
    CHRISTENSEN, E
    BERANT, M
    NEURORADIOLOGY, 1991, 33 (01) : 75 - 78
  • [23] HYPOTHESIS - A ROLE FOR QUINOLINIC ACID IN THE NEUROPATHOLOGY OF GLUTARIC ACIDURIA TYPE-I
    HEYES, MP
    CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 1987, 14 (03) : 441 - 443
  • [24] FRUIT-EATING BATS - MODEL FOR GLUTARIC ACIDURIA TYPE-I
    MCMILLAN, T
    SWEETMAN, L
    MEYERS, GS
    GREEN, R
    CLINICAL RESEARCH, 1985, 33 (01): : A118 - A118
  • [25] Brain MRI findings of a glutaric aciduria type I: A case report and review of the literature
    Mahir, Maissaa
    Zouita, Btissam
    Krifech, Moad
    Basraoui, Dounia
    Jalal, Hicham
    MOLECULAR GENETICS AND METABOLISM, 2022, 135 (02) : S79 - S79
  • [26] Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report
    Biasucci, Giacomo
    Morelli, Nicola
    Natacci, Federica
    Mastrangelo, Massimo
    ITALIAN JOURNAL OF PEDIATRICS, 2018, 44
  • [27] Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report
    Giacomo Biasucci
    Nicola Morelli
    Federica Natacci
    Massimo Mastrangelo
    Italian Journal of Pediatrics, 44
  • [28] DYSTONIA AND DYSKINESIA IN GLUTARIC ACIDURIA TYPE-I - CLINICAL HETEROGENEITY AND THERAPEUTIC CONSIDERATIONS
    KYLLERMAN, M
    SKJELDAL, OH
    LUNDBERG, M
    HOLME, I
    JELLUM, E
    VONDOBELN, U
    FOSSEN, A
    CARLSSON, G
    MOVEMENT DISORDERS, 1994, 9 (01) : 22 - 30
  • [29] MEGALENCEPHALY IN THE NEONATAL-PERIOD AS THE INITIAL MANIFESTATION OF GLUTARIC ACIDURIA TYPE-I
    IAFOLLA, AK
    KAHLER, SG
    JOURNAL OF PEDIATRICS, 1989, 114 (06): : 1004 - 1006
  • [30] GLUTARIC ACIDURIA TYPE-I MISDIAGNOSED AS LEIGHS ENCEPHALOPATHY AND CEREBRAL-PALSY
    STUTCHFIELD, P
    EDWARDS, MA
    GRAY, RGF
    CRAWLEY, P
    GREEN, A
    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 1985, 27 (04): : 514 - 518
12345