Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia

Molecular Genetics and Metabolism

Volumn 92, Issue 1-2, 2007, Pages 71-77

  Lee, Yong Wha ^a   Lee, Dong Hwan ^a   Vockley, Jerry ^b   Kim, Nam Doo ^c   Lee, You Kyoung ^a   Ki, Chang Seok ^d  

^a Soonchunhyang University College of Medicine   (South Korea)

^b CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^c Equispharm Co Ltd   (South Korea)

^d Sungkyunkwan University School of Medicine   (South Korea)

Author keywords

Acyl CoA dehydrogenase; Isovaleric acidemia; Isovaleryl CoA dehydrogenase; IVD; Korean; Mutation

Indexed keywords

ISOVALERIC ACID; ISOVALERYL COENZYME A DEHYDROGENASE;

ACIDEMIA; ADOLESCENT; ARTICLE; CLINICAL ARTICLE; ENZYME ACTIVITY; FAMILY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INTRON; ISOVALERIC ACIDEMIA; KOREA; LYMPHOCYTE CULTURE; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SEQUENCE ANALYSIS; SPLICEOSOME;

ADOLESCENT; AMINO ACID METABOLISM, INBORN ERRORS; BLOTTING, WESTERN; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; ISOVALERYL-COA DEHYDROGENASE; KOREA; MALE; MUTATION; NEONATAL SCREENING; PENTANOIC ACIDS; POLYMERASE CHAIN REACTION; TANDEM MASS SPECTROMETRY;

EID: 34548453006     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.05.003     Document Type: Article

References (21)

1. Tanaka K., Budd M.A., Efron M.L., and Isselbacher K.J. Isovaleric acidemia: a new genetic defect of leucine metabolism. Proc. Natl. Acad. Sci. USA 56 (1966) 236-242
2. Budd M.A., Tanaka K., Holmes L.B., Efron M.L., Crawford J.D., and Isselbacher K.J. Isovaleric acidemia. Clinical features of a new genetic defect of leucine metabolism. N. Engl. J. Med. 277 (1967) 321-327
3. Sweetman L.W.J. Branched chain organic acidurias. In: Scriver C.R.B.A., Valle D., Sly W.S., Childs B., Kinzler K.W., and Vogelstein B. (Eds). The Metabolic and Molecular Bases of Inherited Diseases vol. 2 (2001), McGraw-Hill, New York 2125-2163
4. Ensenauer R., Vockley J., Willard J.M., Huey J.C., Sass J.O., Edland S.D., Burton B.K., Berry S.A., Santer R., Grunert S., Koch H.G., Marquardt I., Rinaldo P., Hahn S., and Matern D. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am. J. Hum. Genet. 75 (2004) 1136-1142
5. Lin W.D., Wang C.H., Lee C.C., Lai C.C., Tsai Y., and Tsai F.J. Genetic mutation profile of isovaleric acidemia patients in Taiwan. Mol. Genet. Metab. 90 (2007) 134-139
6. Cheon K.S., and Lee D.H. Isovaleric acidemia in siblings diagnosed by organic acid analysis. J. Korean Pediatr. Soc. 43 (2000) 828-831
7. Ikeda Y., Keese S.M., Fenton W.A., and Tanaka K. Biosynthesis of four rat liver mitochondrial acyl-CoA dehydrogenases: in vitro synthesis, import into mitochondria, and processing of their precursors in a cell-free system and in cultured cells. Arch. Biochem. Biophys. 252 (1987) 662-674
8. Matsubara Y., Indo Y., Naito E., Ozasa H., Glassberg R., Vockley J., Ikeda Y., Kraus J., and Tanaka K. Molecular cloning and nucleotide sequence of cDNAs encoding the precursors of rat long chain acyl-coenzyme A, short chain acyl-coenzyme A, and isovaleryl-coenzyme A dehydrogenases. Sequence homology of four enzymes of the acyl-CoA dehydrogenase family. J. Biol. Chem. 264 (1989) 16321-16331
9. Vockley J., Rogan P.K., Anderson B.D., Willard J., Seelan R.S., Smith D.I., and Liu W. Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene. Am. J. Hum. Genet. 66 (2000) 356-367
10. Vockley J., Parimoo B., and Tanaka K. Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia. Am. J. Hum. Genet. 49 (1991) 147-157
11. Millington D.S., Kodo N., Norwood D.L., and Roe C.R. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J. Inherit. Metab. Dis. 13 (1990) 321-324
12. Rogan P.K., Faux B.M., and Schneider T.D. Information analysis of human splice site mutations. Hum. Mutat. 12 (1998) 153-171
13. Schneider T.D. Information content of individual genetic sequences. J. Theor. Biol. 189 (1997) 427-441
14. Frerman F.E., and Goodman S.I. Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts. Biochem. Med. 33 (1985) 38-44
15. Mohsen A.W., and Vockley J. Identification of the active site catalytic residue in human isovaleryl-CoA dehydrogenase. Biochemistry 34 (1995) 10146-10152
16. Mohsen A.W., Anderson B.D., Volchenboum S.L., Battaile K.P., Tiffany K., Roberts D., Kim J.J., and Vockley J. Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. Biochemistry 37 (1998) 10325-10335
17. Tiffany K.A., Roberts D.L., Wang M., Paschke R., Mohsen A.W., Vockley J., and Kim J.J. Structure of human isovaleryl-CoA dehydrogenase at 2.6 A resolution: structural basis for substrate specificity. Biochemistry 36 (1997) 8455-8464
18. Matsubara Y., Ito M., Glassberg R., Satyabhama S., Ikeda Y., and Tanaka K. Nucleotide sequence of messenger RNA encoding human isovaleryl-coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts. J. Clin. Invest. 85 (1990) 1058-1064
19. Blencowe B.J. Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases. Trends Biochem. Sci. 25 (2000) 106-110
20. Huang H.D., Horng J.T., Lin F.M., Chang Y.C., and Huang C.C. SpliceInfo: an information repository for mRNA alternative splicing in human genome. Nucleic Acids Res. 33 (2005) D80-D85
21. Ikeda Y., Keese S.M., and Tanaka K. Molecular heterogeneity of variant isovaleryl-CoA dehydrogenase from cultured isovaleric acidemia fibroblasts. Proc. Natl. Acad. Sci. USA 82 (1985) 7081-7085