Minimum birth prevalence of mitochondrial respiratory chain disorders in children

Brain

Volumn 126, Issue 8, 2003, Pages 1905-1912

  Skladal, Daniela ^c   Halliday, Jane ^b   Thorburn, David R ^a,d  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b Birth Defects Register   (Australia)

^c Children's Hospital   (Austria)

^d ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Birth prevalence; Children; Mitochondria; Respiratory chain disorders

Indexed keywords

ARTICLE; AUSTRALIA; BIRTH RATE; CHILD; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ETHNOLOGY; FEMALE; GENETIC VARIABILITY; HEALTH CARE; HUMAN; MAJOR CLINICAL STUDY; MALE; MITOCHONDRIAL RESPIRATORY CHAIN DISORDER; NEWBORN; ONSET AGE; PATIENT REFERRAL; PREVALENCE; PRIORITY JOURNAL;

EID: 0042266280     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/awg170     Document Type: Article

References (26)

1. Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics 2000; 105: 1-6.
2. Bernier FP, Boneh A, Dennett X, Chow CW, Cleary MA, Thorburn DA. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 2002; 59: 1406-11.
3. Bourgeron T, Rustin P, Chretien D, Birch-Machin M, Bourgeois M, Viegas-Pequignot E, et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nature Genetics 1995; 11: 144-9.
4. Chinnery PF, Turnbull DM. Mitochondrial medicine. QJM 1997; 90: 657-67.
5. Chinnery PF, Johnson MA, Wardell TM, Singh-Kler R, Hayes C, Brown DT, et al. The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 2000; 48: 188-93.
6. Dahl HH, Thorburn DR. Mitochondrial diseases: beyond the magic circle. Am J Med Genet 2001; 106: 1-3.
7. Darin N, Oldfors A, Moslemi AR, Holme E, Tulinius M. The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical and DNA abnormalities. Ann Neurol 2001; 49: 377-83.
8. DiMauro S. Mitochondrial encephalomyopathies: back to Mendelian genetics. Ann Neurol 1999; 45: 693-4.
9. Kirby DM, Crawford M, Cleary MA, Dahl HHM, Dennett X, Thorburn DR. Respiratory chain complex I deficiency. An under-diagnosed energy generation disorder. Neurology 1999; 52: 1255-64.
10. Lamont PJ, Surtees R, Woodward CE, Leonard JV, Wood NW, Harding AE. Clinical and laboratory findings in referrals for mitochondrial DNA analysis. Arch Dis Child 1998; 79: 22-7.
11. Luft R, Ikkos D, Palmieri G, Ernster L, Afzelius B. A case of severe hypermetabolism of non-thyroid origin with a defect in the maintenance of mitochondrial respiratory control. A correlated clinical, biochemical and morphological study. J Clin Invest 1962; 41: 1776-804.
12. Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, et al. Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc Natl Acad Sci USA 2003; 100: 605-10.
13. Munnich A, Rotig A, Chretien D, Cormier V, Bourgeron T, Bonnefont JP, et al. Clinical presentation of mitochondrial disorders in childhood. J Inherit Metab Dis 1996; 19: 521-7.
14. Rahman S, Blok RB, Dahl HHM, Danks DM, Kirby DM, Chow CW, et al. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 1996; 39: 343-51.
15. Robinson BH. Lacticacidemia. Biochim Biophys Acta 1993; 1182: 231-44.
16. Rubio-Gozalbo ME, Dijkman KP, van den Heuvel LP, Sengers RC, Wendel U, Smeitink JA. Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations. Hum Mutat 2000; 15: 522-32.
17. Shoffner JM. Maternal inheritance and the evaluation of oxidative phosphorylation diseases. Lancet 1996; 348: 1283-8.
18. Shoubridge EA. Nuclear genetic defects of oxidative phosphorylation. Hum Mol Genet 2001; 10: 2277-84.
19. Smeitink JA, Loeffen JL, Triepels RH, Smeets RJ, Trijbels JM, van den Heuvel LP. Nuclear genes of human complex I of the mitochondrial electron transport chain: state of the art. Hum Mol Genet 1998; 7: 1573-9.
20. Taylor RW, Birch-Machin MA, Bartlett K, Turnbull DM. Succinate-cytochrome-c reductase - assessment of its value in the investigation of defects of the respiratory chain. Biochim Biophys Acta 1993; 1181: 261-5.
21. Thorburn DR. Practical problems in detecting abnormal mitochondrial function and genomes. Hum Reprod 2000; 15 Suppl 2: 57-67.
22. Thorburn DR, Smeitink J. Diagnosis of mitochondrial disorders: clinical and biochemical approach. J Inherit Metab Dis 2001; 24: 312-6.
23. Trijbels JMF, Scholte HR, Ruitenbeek W, Sengers RCA, Janssen AJM, Busch HFM. Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies. Eur J Pediatr 1993; 152: 178-84.
24. Vreken P, Vilianpour F, Nijtmans LG, Grivell LA, Plecko B, Wanders RJ, et al. Defective remodeling of cardiolipin and phosphatidyl glycerol in Barth Syndrome. Biochem Biophys Res Commun 2000; 279: 378-82.
25. Walker UA, Collins S, Byrne E. Respiratory chain encephalomyopathies: a diagnostic classification. Eur Neurol 1996; 36: 260-7.
26. Zeviani M, Bertagnolio B, Uziel G. Neurological presentations of mitochondrial diseases. J Inherit Metab Dis 1996; 19: 504-20.