Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency

Human Molecular Genetics

Volumn 5, Issue 12, 1996, Pages 1925-1930

  Hong, Young Soo ^a   Kerr, Douglas S ^b   Craigen, William J ^c   Tan, Jie ^a   Pan, Yanzhen ^c   Lusk, Marilyn ^b   Patel, Mulchand S ^a  

^a UNIVERSITY AT BUFFALO   (United States)

^b CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; COMPLEMENTARY DNA; DIHYDROLIPOAMIDE DEHYDROGENASE; LACTIC ACID; NUCLEIC ACID BASE; PYRUVATE DEHYDROGENASE COMPLEX; PYRUVIC ACID;

ALLELE; AMINO ACID BLOOD LEVEL; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CODON; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FATHER; FEMALE; FIBROBLAST CULTURE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; IMMUNOBLOTTING; INFANT; LACTATE BLOOD LEVEL; LYMPHOCYTE; MISSENSE MUTATION; MOLECULAR CLONING; MOTHER; NONSENSE MUTATION; NORTHERN BLOTTING; PRIORITY JOURNAL;

EID: 0029803499     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.12.1925     Document Type: Article

References (36)

1. Patel, M.S. and Roche, T.E. (1990) Molecular biology and biochemistry of pyruvate dehydrogenase complexes. FASEB J., 4, 3224-3233.
2. Williams, C.H. Jr. (1965) Studies on lipoyl dehydrogenase from Escherichia coli. J. Biol. Chem., 240, 4793-4800.
3. + activation of Escherichia coli lipoamide dehydrogenase catalyzing the NADH-lipoamide reaction. J. Biol Chem., 256, 2307-2314.
4. Scherer, S.W., Otulakowski, G., Robinson, B.H. and Tsui, L-C. (1991) Localization of the human dihydrolipoamide dehydrogenase gene (DLD) to 7q31-q32. Cytogenet. Cell Genet., 56, 176-177.
5. Feigenbaum, A.S. and Robinson, B.H. (1993) The structure of the human dihydrolipoamide dehydrogenase gene (DLD) and its upstream elements. Genomics, 17, 376-381.
6. Pons, G., Raefsky-Estrin, C., Carothers, D.J., Pepin, R.A., Javed, A.A., Jesse, B.W., Ganapathi, M.K., Samols, D. and Patel, M.S. (1988) Cloning and cDNA sequence of the dihydrolipoamide dehydrogenase component of human α-ketoacid dehydrogenase complexes. Proc. Natl. Acad. Sci. USA, 85, 1422-1426.
7. Robinson, B.H. (1995) Lactic acidemia (Disorders of pyruvate carboxylase, pyruvate dehydrogenase). In Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds) Metabolic and Molecular Basis of Inherited Disease. McGraw-Hill, New York, 7th edition, pp. 1479-1499.
8. Robinson, B.H., Taylor, J. and Sherwood, W.G. (1977) Deficiency of dihydrolipoyl dehydrogenase (a component of the pyruvate and α-ketoglutarate dehydrogenase complexes): A case of congenital chronic lactic acidosis in infancy. Pediat. Res., 11, 1198-1202.
9. Robinson, B.H., Taylor, J., Kahler, S. and Kirkman, H.N. (1981) Lactic acidemia, neurologic deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency. Eur. J. Pediatr., 136, 35-39.
10. Munnich, A., Saudubray, J.M., Taylor, J., Charpentier, C., Marsac, C., Rocchicciolo, F., Amedee-Manesme, O., Coude, F.X., Frezal, J. and Robinson, B.H. (1982) Congenital lactic acidosis, α-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: Dihydrolipoyl dehydrogenase deficiency. Acta Paediatr. Scand., 71, 167-171.
11. Matalon, R., Stumpf, D.A., Michals, K., Hart, R., Parks, J.K. and Goodman, S.I. (1984) Lipoamide dehydrogenase deficiency with primary lactic acidosis: Favorable response to treatment with oral lipoic acid. J. Pediatr., 104, 65-69.
12. Matuda, S., Kitano, A., Sakaguchi, Y., Yoshino, M. and Saheki, T. (1984) Pyruvate dehydrogenase subcomplex with lipoamide dehydrogenase deficiency in a patient with lactic acidosis and branched chain ketoaciduria. Clin. Chim. Acta, 140, 59-64.
13. Sakaguchi, Y., Yoshino, M., Aramaki, S., Yoshida, I., Yamashita, F., Kuhara, T., Matsumoto, I. and Hayashi, T. (1986) Dihydrolipoyl dehydrogenase deficiency: A therapeutic trial with branched-chain amino acid restriction. Eur. J. Pediatr., 145, 271-274.
14. Elpeleg, O.N., Ruitenbeek, W., Jakobs, C., Barash, V. De Vivo, D.C. and Amir, N. (1995) Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome. J. Pediatr., 126, 72-74.
15. Liu, T-C., Kim, H., Arizmendi, C., Kitano, A. and Patel, M.S. (1993) Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient. Proc. Natl. Acad. Sci. USA. 90, 5186-5190.
16. Carothers, D.J., Raefsky-Estrin, C., Pons, G. and Patel, M.S. (1987) Rat liver mitochondria contain two immunologically distinct dihydrolipoamide dehydrogenase. Arch. Biochem. Biophys., 256, 597-605.
17. Ho, L., Javed, A.A., Pepin, R.A., Thekkumkara, T.J., Raefsky, C., Mole, J.E., Caliendo, A.M., Kwon, M.S., Kerr, D.S. and Patel, M.S. (1988) Identification of a cDNA clone for the β-subunit of the pyruvate dehydrogenase component of human pyruvate dehydrogenase complex. Biochem. Biophys. Res. Comm., 150, 904-908.
18. Patel, M.S., Ho, L. and Carothers, D. (1990) Development and molecular biology of mammalian pyruvate dehydrogenase complex. In Cuezva, J.M., Pascual-Leone, A.M. and Patel, M.S. (eds), Endocrine and Biochemical Development of the Fetus and Neonate. Pleum Press, New York, pp. 153-172.
19. Otulakowski, G. and Robinson, B.H. (1987) Isolation and sequence determination of cDNA clones for porcine and human lipoamide dehydrogenase. J. Biol. Chem., 262, 17313-17318.
20. Mattevi, A., Obmolova, G., Kalk, K.H., van Berkel, W.J. and Hol, W.G.J. (1993) Three-dimensional structure of lipoamide dehydrogenase from Pseudomonas fluorescens at 2.8 Å resolution. Analysis of redox and thermostability properties. J. Mol. Biol., 230, 1200-1215.
21. Schierbeek, A.J., Swarte, M.B.A., Dijkstra, B.W., Vriend, G., Read, R.J., Hol, W.G.J. and Drenth, J. (1989) X-ray structure of lipoamide dehydrogenase from Azotobacter vinelandii determined by a combination of molecular and isomorphorous replacement techniques. J. Mol. Biol., 206, 365-379.
22. Jentoft, J., Shoham, M., Hurst, D. and Patel, M.S. (1992) A structural model for human dihydrolipoamide dehydrogenase. Proteins: Struct., Funct. Genet., 14, 88-101.
23. Mattevi, A., Schierbeek, A.J. and Hol, W.G.J. (1991) Refined crystal structure of lipoamide dehydrogenase from Azotobacter vinelandii at 2.2 Å resolution. A comparison with the structure of glutathione reductase. J. Mol. Biol., 220, 975-994.
24. + at 2.45 Å resolution. Proteins: Struct., Funct. Genet., 13, 336-351.
25. Stephens, P.E., Lewis, H.M., Darlison, M.G. and Guest, J.R. (1983) Nucleotide sequence of the lipoamide dehydrogenase gene of Escherichia coli K-12. Eur. J. Biochem., 135, 519-527.
26. Craigen, W.J. (1996) Leigh disease with deficiency of lipoamode dehydrogenase: Treatment failure with dichloroacetate. Pediatr. Neurol., 14, 69-71.
27. Kerr, D.S., Ho, L., Berlin, C.M., Lanoue, K.F., Towfighi, J., Hoppel, C.L., Lusk, M.M., Gondek, C.M. and Patel, M.S. (1987) Systemic deficiency of the first component of the pyruvate dehydrogenase complex. Pediatr. Res., 22, 312-318.
28. Chuang, D.T., Hu, C-W.C. and Patel, M.S. (1983) Induction of the branched-chain 2-oxo acid dehydrogenase complex in 3T3-L1 adipocytes during differentiation. Biochem. J., 214, 177-181.
29. Kerr, D.S., Berry, S.A., Lusk, M.M., Ho, L. and Patel, M.S. (1988) A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts. Pediatr. Res., 24, 95-100.
30. Ho, L., Hu, C-W., Packman, S. and Patel, M.S. (1986) Deficiency of the pyruvate dehydrogenase component in pyruvate dehydrogenase complex-deficient human fibroblasts. J. Clin. Invest., 78, 844-847.
31. Sambrook, J., Fritsch, E.F. and Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual, 2nd edition Cold Spring Harbor Laboratry Press, Cold Spring Harbor, New York pp. 7.43-7.45.
32. Church, G.M. and Gilbert, W. (1984) Genomic sequencing. Proc. Natl. Acad. Sci. USA, 81, 1991-1995.
33. Liu, T-C., Korotchkina, L.G., Hyatt, S.L., Vettakkorumakankav, N.N. and Patel, M.S. (1995) Spectroscopic studies of the characterization of recombinant human dihydrolipoamide dehydrogenase and its site-directed mutants. J. Biol. Chem., 270, 15545-15550.
34. Ausubel, F.L., Brent, R., Kingston, R.E., Moore, D.D., Seidman, J.G., Smith, J.A. and Struhl, K. (1991) Current Protocols in Molecular Biology, Green Publishing Associate and Wiley-Intersciences, New York, pp.1.8.1-1.8.3.
35. Browning, K.S., Uhlinger, D.J. and Reed, L.J. (1988) Nucleotide sequence for yeast dihydrolipoamide dehydrogenase. Proc. Natl. Acad. Sci. USA, 85, 1831-1834.
36. Rahmatullah, M., Radke, G.A., Andrews, P.C. and Roche, T.E. (1990) Changes in the core of the mammalian-pyruvate dehydrogenase complex upon selective removal of the lipoyl domain from the transacetylase component but not from the protein X component. J. Biol. Chem., 265, 14512-14517.