Mitochondrial disorders - A proposal for consensus diagnostic criteria in infants and children

被引:168
作者
Wolf, NI [1 ]
Smeitink, JAM [1 ]
机构
[1] Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Paediat, NL-6500 HB Nijmegen, Netherlands
关键词
D O I
10.1212/01.WNL.0000031795.91814.D8
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Background: In 1996 diagnostic criteria were published for adults with respiratory chain disorders. Modified criteria for children were also recently proposed. Objective: To facilitate and standardize diagnosis of respiratory chain disorders in children. Methods: A new classification has been developed, the Mitochondrial Disease Criteria (MDC), for the diagnosis of respiratory chain disorders in infants and children. It considers clinical, metabolic, imaging, and histopathologic features vs biochemical investigations of skeletal muscle. The criteria were applied to a group of 30 children. Results: The modified adult criteria and the MDC gave similar results, with 17 patients having a definite respiratory chain disorder. No patients reached this category using the original adult criteria. Conclusions: The proposed Mitochondrial Disease Criteria classification allows more precise definition of clinical and metabolic items and the independent scoring of muscle biochemical investigations before combining all findings to determine the overall diagnostic certainty.
引用
收藏
页码:1402 / 1405
页数:4
相关论文
共 28 条
  • [1] Diagnostic criteria for respiratory chain disorders in adults and children
    Bernier, FP
    Boneh, A
    Dennett, X
    Chow, CW
    Cleary, MA
    Thorburn, DR
    [J]. NEUROLOGY, 2002, 59 (09) : 1406 - 1411
  • [2] PYRUVATE OXIDATION IN RAT AND HUMAN SKELETAL-MUSCLE MITOCHONDRIA
    BOOKELMAN, H
    TRIJBELS, JMF
    SENGERS, RCA
    JANSSEN, AJM
    VEERKAMP, JH
    STADHOUDERS, AM
    [J]. BIOCHEMICAL MEDICINE, 1978, 20 (03): : 395 - 403
  • [3] MUTATION OF A NUCLEAR SUCCINATE-DEHYDROGENASE GENE RESULTS IN MITOCHONDRIAL RESPIRATORY-CHAIN DEFICIENCY
    BOURGERON, T
    RUSTIN, P
    CHRETIEN, D
    BIRCHMACHIN, M
    BOURGEOIS, M
    VIEGASPEQUIGNOT, E
    MUNNICH, A
    ROTIG, A
    [J]. NATURE GENETICS, 1995, 11 (02) : 144 - 149
  • [4] STUDIES ON POLYPEPTIDE COMPOSITION, HYDROLYTIC ACTIVITY AND PROTON CONDUCTION OF MITOCHONDRIAL F0F1H+ ATPASE IN REGENERATING RAT-LIVER
    BUCKLE, M
    GUERRIERI, F
    PAZIENZA, A
    PAPA, S
    [J]. EUROPEAN JOURNAL OF BIOCHEMISTRY, 1986, 155 (02): : 439 - 445
  • [5] The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities
    Darin, N
    Oldfors, A
    Moslemi, AR
    Holme, E
    Tulinius, M
    [J]. ANNALS OF NEUROLOGY, 2001, 49 (03) : 377 - 383
  • [6] Decreased activity of the mitochondrial ATP-synthase in fibroblasts from children with late-infantile and juvenile neuronal ceroid lipofuscinosis
    Das, AM
    Kohlschutter, A
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1996, 19 (02) : 130 - 132
  • [7] THE EXPANDING CLINICAL SPECTRUM OF MITOCHONDRIAL DISEASES
    DEVIVO, DC
    [J]. BRAIN & DEVELOPMENT, 1993, 15 (01) : 1 - 22
  • [8] Does the patient have a mitochondrial encephalomyopathy?
    DiMauro, S
    Bonilla, E
    De Vivo, DC
    [J]. JOURNAL OF CHILD NEUROLOGY, 1999, 14 : S23 - S35
  • [9] A MITOCHONDRIAL ENCEPHALOMYOPATHY - THE 1ST CASE WITH AN ESTABLISHED DEFECT AT THE LEVEL OF COENZYME-Q
    FISCHER, JC
    RUITENBEEK, W
    GABREELS, FJM
    JANSSEN, AJM
    RENIER, WO
    SENGERS, RCA
    STADHOUDERS, AM
    TERLAAK, HJ
    TRIJBELS, JMF
    VEERKAMP, JH
    [J]. EUROPEAN JOURNAL OF PEDIATRICS, 1986, 144 (05) : 441 - 444
  • [10] Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia
    Lodi, R
    Cooper, JM
    Bradley, JL
    Manners, D
    Styles, P
    Taylor, DJ
    Schapira, AHV
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (20) : 11492 - 11495