Genetic mutation profile of isovaleric acidemia patients in Taiwan

Molecular Genetics and Metabolism

Volumn 90, Issue 2, 2007, Pages 134-139

  Lin, Wei De ^a,c   Wang, Chung Hsing ^a   Lee, Cheng Chung ^a   Lai, Chien Chen ^a,c   Tsai, Yushin ^b   Tsai, Fuu Jen ^a,b,d  

^a CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^b CHINA MEDICAL UNIVERSITY   (Taiwan)

^c NATIONAL CHUNG HSING UNIVERSITY   (Taiwan)

^d ASIA UNIVERSITY   (Taiwan)

Author keywords

Gene mutation; Isovaleric acidemia; Tandem mass spectrometry

Indexed keywords

3 HYDRIXYISOVALERIC ACID; CARNITINE; ISOVALERIC ACID; ISOVALERYLGLYCINE; UNCLASSIFIED DRUG; VALERIC ACID DERIVATIVE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FOLLOW UP; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; HUMAN; ISOVALERIC ACIDEMIA; LABORATORY TEST; MALE; MISSENSE MUTATION; NEWBORN SCREENING; PRIORITY JOURNAL; TAIWAN; TANDEM MASS SPECTROMETRY; URINALYSIS;

ADULT; CARNITINE; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; ISOVALERYL-COA DEHYDROGENASE; MALE; METABOLISM, INBORN ERRORS; MUTATION; PENTANOIC ACIDS; POLYMORPHISM, GENETIC; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION; TAIWAN;

EID: 33846239451     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.08.011     Document Type: Article

References (26)

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.M., 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) 321-324
3. Berry G.T., Yudkoff M., and Segal S. Isovaleric acidemia: medical and neuro-developmental effects of long-term therapy. J. Pediatr. 113 (1988) 58-64
4. Sweetman L., and Williams J.C. Branched chain organic acidurias. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Basis of Inherited Disease (2001), Mc-Graw-Hill, New York 2125-2163
5. Vockley J., and Ensenauer R. Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am. J. Med. Genet. C Semin. Med. Genet. 142 (2006) 95-103
6. Krieger I., and Tanaka K. Therapeutic effects of glycine in isovaleric acidemia. Pediatr. Res. 10 (1976) 25-29
7. Roe C.R., Millington D.S., Maltby D.A., Kahler S.G., and Bohan T.P. l-carnitine therapy in isovaleric acidemia. J. Clin. Invest. 74 (1984) 2290-2295
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. Ikeda Y., and Tanaka K. Purification and characterization of 2-methyl-branched chain acyl coenzyme A dehydrogenase, an enzyme involved in the isoleucine and valine metabolism, from rat liver mitochondria. J. Biol. Chem. 258 (1983) 9477-9487
10. 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
11. 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
12. Kraus J.P., Matsubara Y., Barton D., Yang-Feng T.L., Glassberg R., Ito M., Ikeda Y., Mole J., Francke U., and Tanaka K. Isolation of cDNA clones coding for rat isovaleryl-CoA dehydrogenase and assignment of the gene to human chromosome 15. Genomics 1 (1987) 264-269
13. Parimoo B., and Tanaka K. Structural organization of the human isovaleryl-CoA dehydrogenase gene. Genomics 15 (1993) 582-590
14. 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
15. 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
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. Volchenboum S.L., Mohsen A.W., Kim J.J., and Vockley J. Arginine 387 of human isovaleryl-CoA dehydrogenase plays a crucial role in substrate/product binding. Mol. Genet. Metab. 74 (2001) 226-237
18. Lin W.D., Wu J.Y., Lai C.C., Tsai F.J., Tsai C.H., Lin S.P., and Niu D.M. A pilot study of neonatal screening by electrospray ionization tandem mass spectrometry in Taiwan. Acta Paediatr. Taiwan 42 (2001) 224-230
19. 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
20. Rashed M.S., Ozand P.T., Bucknall M.P., and Little D. Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatr. Res. 38 (1995) 324-331
21. Roe C.R., Millington D.S., Maltby D.A., Bohan T.P., Kahler S.G., and Chalmers R.A. Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency. Pediatr. Res. 19 (1985) 459-466
22. Schwede T., Kopp J., Guex N., and Peitsch M.C. SWISS-MODEL: an automated protein homology-modeling server. Nucleic Acids Res. 31 (2003) 3381-3385
23. Arnold K., Bordoli L., Kopp J., and Schwede T. The SWISS-MODEL workspace: a web-based environment for protein structure homology modeling. Bioinformatics 22 (2006) 195-201
24. Andresen B.S., Christensen E., Corydon T.J., Bross P., Pilgaard B., Wanders R.J., Ruiter J.P., Simonsen H., Winter V., Knudsen I., Schroeder L.D., Gregersen N., and Skovby F. Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. Am. J. Hum. Genet. 67 (2000) 1095-1103
25. Gibson K.M., Burlingame T.G., Hogema B., Jakobs C., Schutgens R.B.H., Millington D., Roe C.R., Roe D.S., Sweetman L., Steiner R.D., Linck L., Pohowalla P., Sacks M., Kiss D., Rinaldo P., and Vockley J. 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of l-isoleucine metabolism. Pediatr. Res. 47 (2000) 830-833
26. Abdenur J.E., Chamoles N.A., Guinle A.E., Schenone A.B., and Fuertes A.N. Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programme. J. Inherit. Metab. Dis. 21 (1998) 624-630