Females with PDHA1 gene mutations: A diagnostic challenge

Mitochondrion

Volumn 6, Issue 3, 2006, Pages 155-159

  Willemsen, Marjolein ^a   Rodenburg, Richard J T ^a   Teszas, Alexandra ^b   van den Heuvel, Lambert ^a   Kosztolanyi, Gyorgy ^b   Morava, Eva ^a,b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF PÉCS   (Hungary)

Author keywords

Females; Fibroblast; Mitochondrial disease score; Muscle biopsy; PDH; Skewed X inactivation

Indexed keywords

PYRUVATE DEHYDROGENASE COMPLEX;

ADOLESCENT; ARTICLE; CASE REPORT; CHEMICAL ANALYSIS; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME SUBUNIT; FEMALE; FIBROBLAST; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INFANT; METABOLIC DISORDER; MUSCLE BIOPSY; MUSCLE TISSUE; OXIDATIVE PHOSPHORYLATION; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; RELIABILITY; X CHROMOSOME INACTIVATION;

ADOLESCENT; BIOPSY; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; FEMALE; FIBROBLASTS; HUMANS; INFANT; MUSCLES; MUTATION; POINT MUTATION; PYRUVATE DEHYDROGENASE (LIPOAMIDE); PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; X CHROMOSOME INACTIVATION;

EID: 33745142205     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mito.2006.03.001     Document Type: Article

References (13)

1. Benelli C., Fouque F., Redonnet-Vernhet I., Malgat M., Fontan D., Marsac C., and Dey R. A novel Y243S mutation in the pyruvate dehydrogenase E1 alpha gene subunit: correlation with thiamine pyrophosphate interaction. J. Inherit. Metab. Dis. (2002) 325-327
2. Brown R.M., and Brown G.K. X chromosome inactivation and the diagnosis of X linked disease in females. J. Med. Genet. 30 (1993) 177-184
3. Brown G.K., Otero L.J., Le Gris M., and Brown R.M. Pyruvate dehydrogenase deficiency. J. Med. Genet. 31 (1994) 875-879
4. Dahl H.H. Pyruvate dehydrogenase E1 α deficiency: males and females differ yet again. Am. J. Hum. Genet. 56 (1995) 553-557
5. Fujii T., Van Coster R.N., Old S.E., Medori R., Winter S., Gubits R.M., Matthews P.M., Brown R.M., Brown G.K., Dahl H.H., and De Vivio D.C. Pyruvate dehydrogenase deficiency: molecular basis for intrafamilial heterogeneity. Ann. Neurol. 36 (1994) 83-89
6. Janssen, A.J., Smeitink, J.A., van den Heuvel, L.P., Morava, E., Rodenburg, R., 2005. Diagnostics in respiratory chain defects. Clin. Chem. (in press).
7. Kubota T., Nonoyama S., Tonoki H., Masuno M., Imaizumi K., Kojima M., Wakui K., Shimadzu M., and Fukushima Y.K. A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR. Hum. Genet. 104 (1999) 49-55
8. Lissens W., Vreken P., Barth P.G., Wijburg F.A., Ruitenbeek W., Wanders R.J.A., Seneca S., Liebaers I., and De Meirleir L. Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1α gene. Eur. J. Pediatr. 158 (1999) 853-857
9. Lissens W., De Meirleir L., Seneca S., Liebaers I., Brown G.K., Brown R.M., Ito M., Naito E., Kuroda Y., Kerr D.S., Wexler I.D., Patel M.S., Robinson B.H., and Seyda A. Mutations in the X-linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. Hum. Mutat. 15 (2000) 209-219
10. Mine M., Brivet M., Touati G., Grabowski P., Abitbol M., and Marsac C. Splicing error in E1 α pyruvate dehydrogenase mRNA caused by a novel intronic mutation responsible for lactic acidosis and mental retardation. J. Biol. Chem. 278 (2003) 11768-11772
11. Naito E., Ito M., Yokota I., Saijo T., Matsuda J., Ogawa Y., Kitamura S., Takada E., Horii Y., and Kuroda Y. Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region. Biochim. Biophys. Acta 1588 (2000) 79-84
12. Rubio-Gozalbo M.E., Heerschap A., Trijbels J.M., De Meirleir L., Thijssen H.O., Smeitink J.A., and Proton M.R. spectroscopy in a child with pyruvate dehydrogenase complex deficiency. Magn. Reson. Imaging 17 (1999) 939-944
13. Wolf N.I., and Smeitink J.A. Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children. Neurology 59 (2002) 1402-1405