HOMOCYSTINURIA DUE TO 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY REVEALED BY STROKE IN ADULT SIBLINGS

被引：60
|
作者：
VISY, JM
LECOZ, P
CHADEFAUX, B
FRESSINAUD, C
WOIMANT, F
MARQUET, J
ZITTOUN, J
VISY, J
VALLAT, JM
HAGUENAU, M
机构：
[1] HOP NECKER ENFANTS MALAD,SERV BIOCHIM,F-75730 PARIS 15,FRANCE
[2] HOP DUPUYTREN,SERV NEUROL,LIMOGES,FRANCE
[3] HOP HENRI MONDOR,SERV HEMATOL,F-94010 CRETEIL,FRANCE
[4] HOP BRIVE,SERV NEUROL,BRIVE,FRANCE
来源：
NEUROLOGY | 1991年 / 41卷 / 08期
关键词：
D O I：
10.1212/WNL.41.8.1313
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Three patients from a single family of six siblings had homocystinemia and homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency and had severe recurrent strokes in adult life. Two of the patients died 1 year after clinical onset.
引用
收藏
页码：1313 / 1315
页数：3
相关论文
共 50 条
  • [11] 5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant
    Tsuji, Megumi
    Takagi, Atsushi
    Sameshima, Kiyoko
    Iai, Mizue
    Yamashita, Sumimasa
    Shinbo, Hiroko
    Furuya, Noritaka
    Kurosawa, Kenji
    Osaka, Hitoshi
    BRAIN & DEVELOPMENT, 2011, 33 (06): : 521 - 524
  • [12] A CASE OF INFANTILE FORM OF 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY
    HARPEY, JP
    LEMOEL, G
    TROUPEL, S
    ROSENBLATT, DS
    COOPER, BA
    JOURNAL OF CLINICAL CHEMISTRY AND CLINICAL BIOCHEMISTRY, 1981, 19 (08): : 692 - 692
  • [13] Focal epilepsy as the revealing symptom of 5,10-methylenetetrahydrofolate reductase deficiency in a young adult
    Mezouar, N.
    Mochel, F.
    An-Gourfinkel, I.
    Baulac, M.
    Gales, A.
    REVUE NEUROLOGIQUE, 2018, 174 (03) : 173 - 175
  • [14] FOLLOW-UP IN A CHILD WITH 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY
    HARPEY, JP
    LEMOEL, G
    ZITTOUN, J
    JOURNAL OF PEDIATRICS, 1983, 103 (06): : 1007 - 1007
  • [15] Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency
    Baethmann, M
    Wendel, U
    Hoffmann, GF
    Göhlich-Ratmann, G
    Kleinlein, B
    Seiffert, P
    Blom, H
    Voit, T
    NEUROPEDIATRICS, 2000, 31 (06) : 314 - 317
  • [16] INFANTILE TYPE OF HOMOCYSTINURIA WITH N5,10-METHYLENETETRAHYDROFOLATE REDUCTASE DEFECT
    NARISAWA, K
    WADA, Y
    SAITO, T
    SUZUKI, H
    KUDO, M
    ARAKAWA, T
    KATSUSHIMA, N
    TSUBOI, R
    TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 1977, 121 (02): : 185 - 194
  • [17] Nitrous oxide and 5,10-methylenetetrahydrofolate reductase
    Kaufman, JL
    NEW ENGLAND JOURNAL OF MEDICINE, 2003, 349 (15): : 1479 - 1479
  • [18] Genetics of mammalian 5,10-methylenetetrahydrofolate reductase
    Rozen, R
    HOMOCYSTEINE METABOLISM: FROM BASIC SCIENCE TO CLINICAL MEDICINE, 1997, : 37 - 42
  • [19] Molecular biology of 5,10-methylenetetrahydrofolate reductase
    Födinger, M
    Hörl, WH
    Sunder-Plassmann, G
    JOURNAL OF NEPHROLOGY, 2000, 13 (01) : 20 - 33
  • [20] FOLATE-RESPONSIVE HOMOCYSTINURIA AND SCHIZOPHRENIA - DEFECT IN METHYLATION DUE TO DEFICIENT 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE-ACTIVITY
    FREEMAN, JM
    FINKELSTEIN, JD
    MUDD, SH
    NEW ENGLAND JOURNAL OF MEDICINE, 1975, 292 (10): : 491 - 496
12345