Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. the role of next-generation sequencing

Molecular Genetics and Metabolism Reports

Volumn 7, Issue , 2016, Pages 70-76

  Ciara, E ^a   Rokicki, D ^a   Halat, P ^a   Karkucinska Wieckowska A ^a   Piekutowska Abramczuk, D ^a   Mayr, J ^b   Trubicka, J ^a   Szymanska Debinska T ^a   Pronicki, M ^a   Pajdowska, M ^a   Dudzinska M ^c   Gizewska, M ^d   Krajewska Walasek, M ^a   Ksiazyk, J ^a   Sperl, W ^b   Ploski R ^e   Pronicka, E ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b PARACELSUS MEDICAL UNIVERSITY   (Austria)

^c Chorzowskie Centrum Pediatrii i Onkologii   (Poland)

^d POMERANIAN MEDICAL UNIVERSITY   (Poland)

^e MEDICAL UNIVERSITY OF WARSAW   (Poland)

Author keywords

DLD; Novel pathogenic variants; PDHA1; PDHc; Pyruvate dehydrogenase complex deficiency; Whole exome sequencing

Indexed keywords

DEHYDROGENASE E3 SUBUNIT GENE; DIHYDROLIPOAMIDE ACETYLTRANSFERASE; PEPTIDES AND PROTEINS; PROGRAMMED DATA PROCESSOR 1; PYRUVATE DEHYDROGENASE; PYRUVATE DEHYDROGENASE ALPHA 1; PYRUVATE DEHYDROGENASE BETA; PYRUVATE DEHYDROGENASE COMPLEX; PYRUVATE DEHYDROGENASE COMPLEX X; UNCLASSIFIED DRUG;

ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC VALUE; DISEASE COURSE; FAMILY STUDY; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; MALE; NEXT GENERATION SEQUENCING; PRESCHOOL CHILD; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; SCHOOL CHILD;

EID: 84963837776     PISSN: None     EISSN: 22144269     Source Type: Journal    
DOI: 10.1016/j.ymgmr.2016.03.004     Document Type: Article

References (17)

1. R.M. Brown, R.A. Head, I.I. Boubriak, J.V. Leonard, N.H. Thomas, and G.K. Brown Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency Hum. Genet. 115 2 2004 123 127
2. W. Lissens, L. De Meirleir, S. Seneca, I. Liebaers, G.K. Brown, R.M. Brown, M. Ito, E. Naito, Y. Kuroda, D.S. Kerr, I.D. Wexler, M.S. Patel, B.H. Robinson, and A. Seyda Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency Hum. Mutat. 15 3 2000 209 219
3. W. Sperl, L. Fleuren, P. Freisinger, T.B. Haack, A. Ribes, R.G. Feichtinger, R.J. Rodenburg, F.A. Zimmermann, J. Koch, I. Rivera, H. Prokisch, J.A. Smeitink, and J.A. Mayr The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders J. Inherit. Metab. Dis. 38 3 2015 391 403
4. D. Piekutowska-Abramczuk, E. Popowska, M. Pronicki, E. Karczmarewicz, D. Tylek-Lemanska, J. Sykut-Cegielska, T. Szymanska-Dembinska, L. Bielecka, M. Krajewska-Walasek, and E. Pronicka High prevalence of SURF1 c.845-846delCT mutation in Polish Leigh patients Eur. J. Paediatr. Neurol. 13 2 2009 146 153
5. R. Ploski, A. Pollak, S. Muller, M. Franaszczyk, E. Michalak, J. Kosinska, P. Stawinski, M. Spiewak, H. Seggewiss, and Z.T. Bilinska Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy? Circ. Res. 114 2 2014 e2 e5
6. J.M. Cameron, V. Levandovskiy, N. Mackay, I. Tein, and B.H. Robinson Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit Am. J. Med. Genet. A 131 1 2004 59 66
7. C. Castiglioni, D. Verrigni, C. Okuma, A. Diaz, K. Alvarez, T. Rizza, R. Carrozzo, E. Bertini, and M. Miranda Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review Eur. J. Paediatr. Neurol. 19 5 2015 497 503
8. http://www.hgmd.cf.ac.uk.
9. S. van Dongen, R.M. Brown, G.K. Brown, D.R. Thorburn, and A. Boneh Thiamine-responsive and non-responsive patients with PDHC-E1 deficiency: a retrospective assessment JIMD Rep. 15 2015 13 27
10. R. Bachmann-Gagescu, J.L. Merritt 2nd, and S.H. Hahn A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene J. Inherit. Metab. Dis. 32 Suppl. 1 2009
11. K. Bhattacharya Investigation and management of the hepatic glycogen storage diseases Transl. Pediatr. 4 3 2015 240 248
12. M. Brivet, M.L. Moutard, M. Zater, L. Venet, C. Chenel, M. Mine, and A. Legrand First characterization of a large deletion of the PDHA 1 gene Mol. Genet. Metab. 86 4 2005 456 461
13. M.H. Odievre, D. Chretien, A. Munnich, B.H. Robinson, R. Dumoulin, S. Masmoudi, N. Kadhom, A. Rotig, P. Rustin, and J.P. Bonnefont A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency Hum. Mutat. 25 3 2005 323 324
14. S.C. Quinonez, S.M. Leber, D.M. Martin, J.G. Thoene, and J.K. Bedoyan Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency Pediatr. Neurol. 48 1 2013 67 72
15. S.D. DeBrosse, K. Okajima, S. Zhang, G. Nakouzi, C.L. Schmotzer, M. Lusk-Kopp, M.B. Frohnapfel, G. Grahame, and D.S. Kerr Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype Mol. Genet. Metab. 107 3 2012 394 402
16. E. Wilichowski, G.C. Korenke, W. Ruitenbeek, L. De Meirleir, A. Hagendorff, A.J. Janssen, W. Lissens, and F. Hanefeld Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation J. Neurol. Sci. 157 2 1998 206 213
17. P. Buda, D. Piekutowska-Abramczuk, A. Karkucinska-Wieckowska, E. Jurkiewicz, S. Chelstowska, M. Pajdowska, M. Migdal, J. Ksiazyk, K. Kotulska, and E. Pronicka Drop attacks as first clinical symptoms in a child carrying MTTK m.8344A > G mutation Folia Neuropathol. 51 4 2013 347 354