Severe rhabdomyolysis with hypoglycemia in an adult patient with carnitine palmitoyltransferase II deficiency

被引:10
作者
Deutsch, M. [1 ]
Vassilopoulos, D. [1 ]
Sevastos, N. [1 ]
Papadimitriou, A. [2 ]
Vasiliou, K. [1 ]
Archimandritis, A. J. [1 ]
机构
[1] Hippokrateion Hosp, Acad Dept Internal Med, Athens 11527, Greece
[2] Univ Thessaly, Sch Med, Dept Neurol, Larisa, Greece
关键词
carnitine palmitoyltransferase II; rhabdomyolysis; hypoglycemia;
D O I
10.1016/j.ejim.2007.04.025
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Carnitine palmitoyltransferase II (CPT2) deficiency is an inherited disorder associated with rhabdomyolysis. The adult form of CPT2 deficiency is usually "benign", characterized by episodes of rhabdomyolysis without extramuscular manifestations and with a good outcome, while the infantile type characteristically presents with severe metabolic symptoms such as hypoketotic hypoglycemia. We present here a case of severe rhabdomyolysis with acute renal failure and hypoglycemia in an adult patient with CPT2 deficiency. (c) 2008 European Federation of Internal Medicine. Published by Elsevier B.V. All rights reserved.
引用
收藏
页码:289 / 291
页数:3
相关论文
共 6 条
  • [1] HYPOGLYCEMIA ASSOCIATED WITH RENAL-FAILURE
    AREM, R
    [J]. ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA, 1989, 18 (01) : 103 - 121
  • [2] MUSCLE CARNITINE PALMITYLTRANSFERASE DEFICIENCY AND MYOGLOBINURIA
    DIMAURO, S
    DIMAURO, PMM
    [J]. SCIENCE, 1973, 182 (4115) : 929 - 931
  • [3] Metabolic studies in a patient with severe carnitine palmitoyltransferase type II deficiency
    Fontaine, M
    Briand, G
    Largilliere, C
    Degand, P
    Divry, P
    Vianey-Saban, C
    Mousson, B
    Vamecq, J
    [J]. CLINICA CHIMICA ACTA, 1998, 273 (02) : 161 - 170
  • [4] THE SPECTRUM OF RHABDOMYOLYSIS
    GABOW, PA
    KAEHNY, WD
    KELLEHER, SP
    [J]. MEDICINE, 1982, 61 (03) : 141 - 152
  • [5] MOLECULAR CHARACTERIZATION OF INHERITED CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY
    TARONI, F
    VERDERIO, E
    FIORUCCI, S
    CAVADINI, P
    FINOCCHIARO, G
    UZIEL, G
    LAMANTEA, E
    GELLERA, C
    DIDONATO, S
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1992, 89 (18) : 8429 - 8433
  • [6] Carnitine palmitoyltransferase II deficiency - Molecular and biochemical analysis of 32 patients
    Wieser, T
    Deschauer, M
    Olek, K
    Hermann, T
    Zierz, S
    [J]. NEUROLOGY, 2003, 60 (08) : 1351 - 1353