Neonatal onset of Mitochondrial disorders in 129 patients: Clinical and laboratory characteristics and a new approach to diagnosis

Journal of Inherited Metabolic Disease

Volumn 35, Issue 5, 2012, Pages 749-759

  Honzik, Tomas ^a   Tesarova, Marketa ^a   Magner, Martin ^a   Mayr, Johannes ^b   Jesina, Pavel ^a   Vesela, Katerina ^a   Wenchich, Laszlo ^a   Szentivanyi, Karol ^a   Hansikova, Hana ^a   Sperl, Wolfgang ^b   Zeman, Jiri ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b PARACELSUS MEDICAL UNIVERSITY   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; CYTOCHROME C OXIDASE 1; CYTOCHROME C OXIDASE 2; LACTIC ACID; MEMBRANE PROTEIN; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE EPSILON SUBUNIT; SUCCINYL COENZYME A SYNTHETASE; SUCCINYL COENZYME A SYNTHETASE ALPHA SUBUNIT; TRANSMEMBRANE PROTEIN 70; UNCLASSIFIED DRUG;

ALPERS DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; ARTIFICIAL VENTILATION; CARDIOMYOPATHY; CLINICAL ASSESSMENT TOOL; CLINICAL FEATURE; COMPLEX I DEFICIENCY; COMPLEX III DEFICIENCY; COMPLEX V DEFICIENCY; CYTOCHROME C OXIDASE DEFICIENCY; DIAGNOSTIC APPROACH ROUTE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME DEFICIENCY; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPERAMMONEMIA; INCIDENCE; INFANTILE SPASM; INTRAUTERINE GROWTH RETARDATION; LABORATORY TEST; LEIGH DISEASE; MAJOR CLINICAL STUDY; MOLECULAR DIAGNOSIS; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NEWBORN; ONSET AGE; PEARSON SYNDROME; PREMATURITY; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; RETROSPECTIVE STUDY; SYMPTOM;

CARDIOMYOPATHIES; FEMALE; FETAL GROWTH RETARDATION; HUMANS; HYPERAMMONEMIA; INFANT, NEWBORN; INFANT, PREMATURE; LEIGH DISEASE; MALE; MITOCHONDRIAL DISEASES; MUTATION; RETROSPECTIVE STUDIES;

EID: 84866544492     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9440-3     Document Type: Article

References (63)

1. Antonicka H, Leary SC, Guercin GH et al. (2003a) Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency. Hum Mol Genet 12:2693-2702
2. Antonicka H, Mattman A, Carlson CG et al. (2003b) Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. Am J Hum Genet 72:101-114
3. Azevedo LC (2010) Mitochondrial dysfunction during sepsis. Endocrinol Metab Immune Disord Drug Targets 10:214-223
4. Barnerias C, Saudubray JM, Touati G et al. (2010) Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis. Dev Med Child Neurol 52:e1-e9
5. Barth PG, Valianpour F, Bowen VM et al. (2004) X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet A 126A:349-354
6. Bernier FP, Boneh A, Dennett X et al. (2002) Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 59:1406-1411
7. Bohm M, Pronicka E, Karczmarewicz E et al. (2006) Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency. Pediatr Res 59:21-26
8. Cameron JM, Levandovskiy V, Mackay N et al. (2011) Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization. Mitochondrion 11:191-199
9. Capkova M, Hansikova H, Godinot C et al. (2002) A new missense mutation of 574 C>T in the SURF1 gene-biochemical and molecular genetic study in seven children with Leigh syndrome. Cas Lek Cesk 141:636-641
10. Cerna L, Wenchich L, Hansikova H et al. (2001) Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency. Med Sci Monit 7:1319-1325
11. Constantin-Teodosiu D, Cederblad G, Hultman E (1991) A sensitive radioisotopic assay of pyruvate dehydrogenase complex in human muscle tissue. Anal Biochem 198:347-351
12. Debray FG, Lambert M, Chevalier I et al. (2007) Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases. Pediatrics 119:722-733
13. Donati MA, Malvagia S, Pasquini E et al. (2006) Barth syndrome presenting with acute metabolic decompensation in the neonatal period. J Inherit Metab Dis 29:684
14. Fragaki K, Procaccio V, Bannwarth S et al. (2009) A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene. Mitochondrion 9:346-352
15. Garcia-Cazorla A, De Lonlay P, Nassogne MC et al. (2005) Long-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patients. Pediatrics 116:1170-1177
16. Gibson K, Halliday JL, Kirby DM et al. (2008) Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses. Pediatrics 122:1003-1008
17. Honzik T, Tesarova M, Mayr JA et al. (2010) Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation. Arch Dis Child 95:296-301
18. Honzik T, Wenchich L, Bohm M et al. (2008) Activities of respiratory chain complexes and pyruvate dehydrogenase in isolated muscle mitochondria in premature neonates. Early Hum Dev 84:269-276
19. Janssen AJ, Trijbels FJ, Sengers RC et al. (2006) Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology. Clin Chem 52:860-871
20. Klement P, Nijtmans LG, Van den Bogert C et al. (1995) Analysis of oxidative phosphorylation complexes in cultured human fibroblasts and amniocytes by blue-native-electrophoresis using mitoplasts isolated with the help of digitonin. Anal Biochem 231:218-224
21. Leshinsky-Silver E, Lev D, Tzofi-Berman Z et al. (2005) Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene. Biochem Biophys Res Commun 334:582-587
22. Lui K, Abdel-Latif ME, Allgood CL et al. (2006) Improved outcomes of extremely premature outborn infants: effects of strategic changes in perinatal and retrieval services. Pediatrics 118:2076-2083
23. Magner M, Szentivanyi K, Svandova I et al. (2011) Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures. Eur J Paediatr Neurol 15:101-108
24. Mayr JA, Havlickova V, Zimmermann F et al. (2010) Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. Hum Mol Genet 19:3430-3439
25. Mayr JA, Paul J, Pecina P et al. (2004) Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase. Pediatr Res 55:988-994
26. Morava E, van den Heuvel L, Hol F et al. (2006) Mitochondrial disease criteria: diagnostic applications in children. Neurology 67:1823-1826
27. Morel AS, Joris N, Meuli R et al. (2009) Early neurological impairment and severe anemia in a newborn with Pearson syndrome. Eur J Pediatr 168:311-315
28. Moslemi AR, Darin N, Tulinius M et al. (2008) Progressive encephalopathy and complex I deficiency associated with mutations in MTND1. Neuropediatrics 39:24-28
29. Munnich A, Rustin P (2001) Clinical spectrum and diagnosis of mitochondrial disorders. Am J Med Genet 106:4-17
30. Ostergaard E, Christensen E, Kristensen E et al. (2007) Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. Am J Hum Genet 81:383-387
31. Pejznochova M, Tesarova M, Hansikova H et al. (2010) Mitochondrial DNA content and expression of genes involved in mtDNA transcription, regulation and maintenance during human fetal development. Mitochondrion 10:321-329
32. Rouzier C, Le Guedard-Mereuze S, Fragaki K et al. (2010) The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein. J Med Genet 47:670-676
33. Rustin P, Chretien D, Bourgeron T et al. (1994) Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta 228:35-51
34. Saada A, Vogel RO, Hoefs SJ et al. (2009) Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. Am J Hum Genet 84:718-727
35. Scaglia F, Towbin JA, Craigen WJ et al. (2004) Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 114:925-931
36. Shchelochkov OA, Li FY, Wang J et al. (2010) Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70. Mol Genet Metab 101:282-285
37. Schagger H, Noack H, Halangk W et al. (1995) Cytochrome-c oxidase in developing rat heart. Enzymic properties and amino-terminal sequences suggest identity of the fetal heart and the adult liver isoform. Eur J Biochem 230:235-241
38. Schagger H, von Jagow G (1991) Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form. Anal Biochem 199:223-231
39. Schiff M, Ogier de Baulny H, Lombes A (2011) Neonatal cardiomyopathies and metabolic crises due to oxidative phosphorylation defects. Semin Fetal Neonatal Med 16:216-221
40. Skladal D, Sudmeier C, Konstantopoulou V et al. (2003) The clinical spectrum of mitochondrial disease in 75 pediatric patients. Clin Pediatr (Phila) 42:703-710
41. Smits P, Mattijssen S, Morava E et al. (2010) Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects. Eur J Hum Genet EJHG 18:324-329
42. Soares-Fernandes JP, Teixeira-Gomes R, Cruz R et al. (2008) Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings. Pediatr Radiol 38:559-562
43. Sperl W, Sengers RC, Trijbels JM et al. (1992) Enzyme activities of the mitochondrial energy generating system in skeletal muscle tissue of preterm and fullterm neonates. Ann Clin Biochem 29 (Pt 6):638-645
44. Spiegel R, Khayat M, Shalev SA et al. (2011) TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome. J Med Genet 48:177-182
45. Spinazzola A, Invernizzi F, Carrara F et al. (2009) Clinical and molecular features of mitochondrial DNA depletion syndromes. J Inherit Metab Dis 32:143-158
46. Stiburek L, Vesela K, Hansikova H et al. (2009) Loss of function of Sco1 and its interaction with cytochrome c oxidase. Am J Physiol Cell Physiol 296:C1218-C1226
47. Strassburg HM, Koch J, Mayr J et al. (2006) Acute flaccid paralysis as initial symptom in 4 patients with novel E1alpha mutations of the pyruvate dehydrogenase complex. Neuropediatrics 37:137-141
48. Suomalainen A (2011) Biomarkers for mitochondrial respiratory chain disorders. J Inherit Metab Dis 34:277-282
49. Suomalainen A, Elo JM, Pietilainen KH et al. (2011) FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study. Lancet Neurol 10:806-818
50. Taylor GP (2004) Neonatal mitochondrial cardiomyopathy. Pediatr Dev Pathol 7:620-624
51. Tesarova M, Hansikova H, Hlavata A et al. (2002) Variation in manifestations of heteroplasmic mtDNA mutation 8993 T>G in two families. Cas Lek Cesk 141:551-554
52. Tzoulis C, Engelsen BA, Telstad W et al. (2006) The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 129:1685-1692
53. Valnot I, Osmond S, Gigarel N et al. (2000) Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am J Hum Genet 67:1104-1109
54. Vary TC, Hazen S (1999) Sepsis alters pyruvate dehydrogenase kinase activity in skeletal muscle. Mol Cell Biochem 198:113-118
55. Verdijk RM, de Krijger R, Schoonderwoerd K et al. (2008) Phenotypic consequences of a novel SCO2 gene mutation. Am J Med Genet A 146A:2822-2827
56. Vesela K, Hansikova H, Tesarova M et al. (2004) Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene. Acta Paediatr 93:1312-1317
57. von Kleist-Retzow JC, Cormier-Daire V, Viot G et al. (2003) Antenatal manifestations of mitochondrial respiratory chain deficiency. J Pediatr 143:208-212
58. Wexler ID, Hemalatha SG, McConnell J et al. (1997) Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations. Neurology 49:1655-1661
59. Wolf NI, Smeitink JA (2002) Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children. Neurology 59:1402-1405
60. Wong LJ, Scaglia F, Graham BH et al. (2010) Current molecular diagnostic algorithm for mitochondrial disorders. Mol Genet Metab 100:111-117
61. Wortmann SB, Rodenburg RJ, Backx AP et al. (2007) Early cardiac involvement in children carrying the A3243G mtDNA mutation. Acta Paediatr 96:450-451
62. Yen TY, Hwu WL, Chien YH et al. (2008) Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review. Eur J Pediatr 167:941-944
63. Zand DJ, Simon EM, Pulitzer SB et al. (2003) In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency. AJNR Am J Neuroradiol 24:1471-1474