Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria

被引：22
|
作者：
Minetti, C
Garavaglia, B
Bado, M
Invernizzi, F
Bruno, C
Rimoldi, M
Pons, R
Taroni, F
Cordone, G
机构：
[1] Univ Genova, Dept Paediat, Muscle Dis Serv, Ist Giannina Gaslini, I-16147 Genoa, Italy
[2] Ist Nazl Neurol C Besta, Dept Biochem & Genet, Milano, Italy
[3] Ist Nazl Neurol C Besta, Lab Cellular Pathol, Milano, Italy
来源：
NEUROMUSCULAR DISORDERS | 1998年 / 8卷 / 01期
关键词：
very-long-chain acyl-coenzyme A dehydrogenase; myoglobinuria; fatty-acid beta-oxidation;
D O I：
10.1016/S0960-8966(97)00121-1
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
A 9-year-old boy had recurrent episodes of myoglobinuria and normal urinary organic acid profile. Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency was detected biochemically in cultured skin fibroblasts and confirmed by Western blot analysis. The patient had a distinctive plasma fatty-acid profile, which was present even between attacks. Early diagnosis of this disorder is important because of the apparently protective effect of an appropriate dietary regimen. (C) 1998 Elsevier Science B.V.
引用
收藏
页码：3 / 6
页数：4
相关论文
共 50 条
  • [1] Perioperative management of a child with very-long-chain acyl-coenzyme A dehydrogenase deficiency
    Steiner, LA
    Studer, W
    Baumgartner, ER
    Frei, FJ
    [J]. PAEDIATRIC ANAESTHESIA, 2002, 12 (02): : 187 - 191
  • [2] Very-long-chain acyl-coenzyme A dehydrogenase deficiency in mice
    Exil, VJ
    Roberts, RL
    Sims, H
    McLaughlin, JE
    Malkin, RA
    Gardner, CD
    Ni, GM
    Rottman, JN
    Strauss, AW
    [J]. CIRCULATION RESEARCH, 2003, 93 (05) : 448 - 455
  • [3] Successful management of pregnancy with very-long-chain acyl-coenzyme A dehydrogenase deficiency
    Yamamoto, Hiroko
    Tachibana, Daisuke
    Tajima, Go
    Shigematsu, Yosuke
    Hamasaki, Takashi
    Tanaka, Akemi
    Koyama, Masayasu
    [J]. JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH, 2015, 41 (07) : 1126 - 1128
  • [4] Anesthetic management for a patient with very-long-chain acyl-coenzyme A dehydrogenase deficiency
    Kenji Iwata
    Kumiko Tanabe
    Yoko Sugiyama
    Midori Tanaka
    Motoyasu Takenaka
    Hiroki Iida
    [J]. Journal of Anesthesia, 2012, 26 : 957 - 958
  • [5] Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency
    Pons, R
    Cavadini, P
    Baratta, S
    Invernizzi, F
    Lamantea, E
    Garavaglia, B
    Taroni, F
    [J]. PEDIATRIC NEUROLOGY, 2000, 22 (02) : 98 - 105
  • [6] Anesthetic management for a patient with very-long-chain acyl-coenzyme A dehydrogenase deficiency
    Iwata, Kenji
    Tanabe, Kumiko
    Sugiyama, Yoko
    Tanaka, Midori
    Takenaka, Motoyasu
    Iida, Hiroki
    [J]. JOURNAL OF ANESTHESIA, 2012, 26 (06) : 957 - 958
  • [7] Recurrent myoglobinuria as a presenting manifestation of very long chain acyl coenzyme A dehydrogenase deficiency
    Straussberg, R
    Harel, L
    Varsano, I
    Elpeleg, ON
    Shamir, R
    Amir, J
    [J]. PEDIATRICS, 1997, 99 (06) : 894 - 896
  • [8] A case of very-long-chain acyl-coenzyme A dehydrogenase deficiency with novel compound heterozygous mutations
    Yamamoto, Fumiko
    Nakamagoe, Kiyotaka
    Yamada, Kenji
    Ishii, Akiko
    Furuta, Junichi
    Yamaguchi, Seiji
    Tamaoka, Akira
    [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 2016, 368 : 165 - 167
  • [9] Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency first presenting with hypoglycemia and strokes.
    Jayakar, P
    Martinez, D
    Roe, CR
    Rarback, S
    Lazar, S
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 281 - 281
  • [10] Very-long-chain acyl-coenzyme A dehydrogenase deficiency - a new cause of myoglobinuric acute renal failure
    Cairns, AP
    O'Donoghue, PM
    Patterson, VH
    Brown, JH
    [J]. NEPHROLOGY DIALYSIS TRANSPLANTATION, 2000, 15 (08) : 1232 - 1234
12345