Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity

American Journal of Medical Genetics, Part A

Volumn 140, Issue 14, 2006, Pages 1542-1552

  Cameron, Jessie M ^a   Levandovskiy, Valeriy ^a   MacKay, Neviana ^a   Raiman, Julian ^b   Renaud, Deborah L ^c   Clarke, Joe T R ^a   Feigenbaum, Annette ^a   Elpeleg, Orly ^d   Robinson, Brian H ^a  

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^b GUY S HOSPITAL   (United Kingdom)

^c MAYO CLINIC   (United States)

^d SHAARE ZEDEK MEDICAL CENTER   (Israel)

Author keywords

Dihydrolipoamide dehydrogenase deficiency; Pyruvate dehydrogenase deficiency

Indexed keywords

DIHYDROLIPOAMIDE ACETYLTRANSFERASE; ISOLEUCINE; PYRUVATE DEHYDROGENASE; THREONINE;

AMINO ACID SUBSTITUTION; ARTICLE; BRAIN DISEASE; CASE REPORT; CONTROLLED STUDY; DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME KINETICS; ENZYME SUBUNIT; FIBROBLAST; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; JEW; LACTIC ACIDOSIS; MALE; MICHAELIS MENTEN KINETICS; MICROCEPHALY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; RELATIVE;

ACIDOSIS, LACTIC; AMINO ACID SUBSTITUTION; BASE SEQUENCE; BRAIN DISEASES, METABOLIC; CHILD; CHILD, PRESCHOOL; DIHYDROLIPOAMIDE DEHYDROGENASE; DNA; FEMALE; FIBROBLASTS; HETEROZYGOTE; HUMANS; KINETICS; MALE; MICROCEPHALY; MODELS, MOLECULAR; PHENOTYPE; POINT MUTATION; PROTEIN SUBUNITS; PYRUVATE DEHYDROGENASE COMPLEX;

EID: 33745611572     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31313     Document Type: Article

References (15)

1. Cerna L, Wenchich L, Hansikova H, Kmoch S, Peskova K, Chrastina P, Brynda J, Zeman J. 2001. Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency. Med Sci Monit 7:1319-1325.
2. Grafakou O, Oexle K, van den Heuvel L, Smeets R, Trijbels F, Goebel HH, Bosshard N, Superti-Furga A, Steinmann B, Smeitink J. 2003. Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation. Eur J Pediatr 162:714-718.
3. Hong YS, Kerr DS, Craigen WJ, Tan J, Pan Y, Lusk M, Patel MS. 1996. Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency. Hum Mol Genet 5:1925-1930.
4. Hong YS, Kerr DS, Liu TC, Lusk M, Powell BR, Patel MS. 1997. Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del). Analysis of a family and prenatal testing. Biochim Biophys Acta 1362:160-168.
5. Hong YS, Korman SH, Lee J, Ghoshal P, Wu Q, Barash V, Kang S, Oh S, Kwon M, Gutman A, et al. 2003. Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: Possible beneficial effect of vitamin therapy. J Inherit Metab Dis 26:816-818.
6. Liu TC, Kim H, Arizmendi C, Kitano A, Patel MS. 1993. Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient. Proc Natl Acad Sci USA 90:5186-5190.
7. Liu TC, Korotchkina LG, Hyatt SL, Vettakkorumakankav NN, Patel MS. 1995. Spectroscopic studies of the characterization of recombinant human dihydrolipoamide dehydrogenase and its site-directed mutants. J Biol Chem 270:15545-15550.
8. Maj MC, MacKay N, Levandovskiy V, Addis J, Baumgartner ER, Baumgartner MR, Robinson BH, Cameron JM. 2005. Pyruvate dehydrogenase phosphatase deficiency: Identification of the first mutation in two brothers and restoration of activity by protein complementation. J Clin Endocrinol Metab 90:4101-4107.
9. Odievre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rotig A, Rustin P, Bonnefont JP. 2005. A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency. Hum Mutat 25:323-324.
10. Pitkanen S, Raha S, Robinson BH. 1996. Diagnosis of complex I deficiency in patients with lactic acidemia using skin fibroblast cultures. Biochem Mol Med 59:134-137.
11. Robinson BH. 1987. An enzymatic approach to the study of the Krebs tricarboxylic acid cycle. In: Darley-Usmar VM, Rickwood D, Wilson MT, editors. Mitochondira: A practical approach. Oxford: IRL Press, p 153-170.
12. Robinson BH, Taylor J, Sherwood WG. 1980. The genetic heterogeneity of lactic acidosis: Occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis. Pediatr Res 14:956-962.
13. Shaag A, Saada A, Berger I, Mandel H, Joseph A, Feigenbaum A, Elpeleg ON. 1999. Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews. Am J Med Genet 82:177-182.
14. Shany E, Saada A, Landau D, Shaag A, Hershkovitz E, Elpeleg ON. 1999. Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain. Biochem Biophys Res Commun 262:163-166.
15. Yi-Yung DI. 1967. Inborn errors of metabolism Part 2: Laboratory methods. Chicago: Year Book Medical. 79 p.