Two inborn errors of metabolism in a newborn: Glutaric aciduria type I combined with isobutyrylglycinuria

Clinica Chimica Acta

Volumn 411, Issue 23-24, 2010, Pages 2087-2091

  Popek, Manuela ^a   Walter, Melanie ^a   Fernando, Malkanthi ^a   Lindner, Martin ^b   Schwab, Karl Otfried ^a   Sass, Jörn Oliver ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

ACAD8 gene; Acylcarnitines; GCDH gene; Glutaric acid; Glutaric aciduria; Glutaryl coenzyme A dehydrogenase; Isobutyryl coenzyme dehydrogenase; Isobutyrylglycine; Isobutyrylglycinuria; Newborn screening; Organic acids; Tandem mass spectrometry

Indexed keywords

3 HYDROXYGLUTAMIC ACID; ACYLCARNITINE; ACYLCARNITINE C4; ACYLCARNITINE C5DC; GLUTARYL COENZYME A DEHYDROGENASE; ISOBUTYRYL COENZYME DEHYDROGENASE; OXIDOREDUCTASE; UNCLASSIFIED DRUG; VALINE;

AMINO ACID METABOLISM; ARTICLE; BIOACCUMULATION; BODY FLUID; CASE REPORT; CONTROLLED STUDY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYME ACTIVITY; ENZYME DEFECT; ENZYME METABOLISM; EXON; FEMALE; FOLLOW UP; GAS CHROMATOGRAPHY; GENETIC ANALYSIS; GLUTARIC ACIDURIA TYPE I; HOMOZYGOSITY; HUMAN; HUMAN CELL; ISOBUTYRYLGLYCINURIA; LYMPHOCYTE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN SCREENING; PATIENT ASSESSMENT; PREDICTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; TANDEM MASS SPECTROMETRY;

AMINO ACID METABOLISM, INBORN ERRORS; BASE SEQUENCE; BRAIN DISEASES, METABOLIC; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; GLUTARYL-COA DEHYDROGENASE; GLYCINE; HUMANS; INFANT, NEWBORN; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES;

EID: 77957754707     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2010.09.006     Document Type: Article

References (26)

1. Goodman S.I., Markey S.P., Moe P.G., Miles B.S., Teng C.C. Glutaric aciduria: a "new" inborn error of metabolism. Biochem Med 1975, 12:12-21.
2. Goodman S.I., Frerman F.E. Organic acidemias due to defects in lysine oxidation: 2-ketoadipic acidemia and glutaric acidemia. The metabolic and molecular bases of inherited disease 2001, 2195-2204. McGraw Hill, New York. 8th edition. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
3. Kölker S., Garbade S.F., Greenberg C.R., et al. Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res 2006, 59:840-847.
4. Boneh A., Beauchamo M., Humphrey M., Watkins J., Peters H., Yaplito-Lee J. Newborn screening for glutaric aciduria type I in Victoria: treatment and outcome. Mol Genet Metab 2008, 94:287-291.
5. Bijarnia S., Wiley, Carpenter K., Christodoulou J., Ellaway C.J., Wilcken B. Glutaric aciduria type I: outcome following detection by newborn screening. J Inherit Metab Dis 2008, 31:503-507.
6. Höliner I., Simma B., Reiter A., Sass J.O., Zschocke J., Huemer M. Compliance to clinical guidelines determines outcome in glutaric aciduria type I in the era of newborn screening. Klin Pädiatr 2010, 222:35-37.
7. Lindner M., Kolker S., Schulze A., Christensen E., Greenberg C.R., Hoffmann G.F. Neonatal screening for glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 2004, 27:851-859.
8. Watson M.S., Lloyd-Puryear M.A., Mann M.Y., Rinaldo P., Howell R.R. Main report. Genet Med 2006, 8:12S-252S.
9. Bodamer O.A., Hoffmann G.F., Lindner M. Expanded newborn screening in Europe 2007. J Inherit Metab Dis 2007, 39:439-444.
10. Roe C.R., Cederbaum S.D., Roe D.S., Mardach R., Galindo A., Sweetman L. Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism. Mol Genet Metab 1998, 65:264-271.
11. Nguyen T.V., Andresen B.S., Corydon T.J., et al. Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. Mol Genet Metab 2002, 77:68-79.
12. Koeberl D.D., Young S.P., Gregersen N., et al. Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. Pediatr Res 2003, 54:219-223.
13. Battaile K.P., Nguyen T.V., Vockley J., Kim J.-J.P. Structures of isobutyryl-CoA dehydrogenase and enzyme-product complex: comparison with isovaleryl- and short-chain acyl-CoA dehydrogenases. J Biol Chem 2004, 279:16526-16534.
14. Sass J.O., Sander S., Zschocke J. Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants. J Inherit Metab Dis 2004, 27:741-745.
15. Pedersen C.B., Bischoff C., Christensen E., et al. Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening. Pediatr Res 2006, 60:315-320.
16. Oglesbee D., He M., Majumder M., et al. Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genet Med 2007, 9:108-116.
17. Yoo E.-H., Cho H.-J., Ki C.-S., Lee S.-Y. Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening. Clin Chem Lab Med 2007, 45:1495-1497.
18. Kölker S., Christensen E., Leonard J.V., et al. Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis 2007, 30:5-22.
19. Chace D.H., Hillman S.L., Van Hove J.L., Naylor E.W. Rapid diagnosis of MCAD deficiency: quantitatively analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry. Clin Chem 1997, 43:2106-2113.
20. Lehnert W. Long-term results of selective screening for inborn errors of Metabolism. Eur J Pediatr 1994, 153:S9-S13.
21. Lowry O.H., Rosebrough N.J., Farr A.L., Randall R.J. Protein measurement with the folin phenol reagent. J Biol Chem 1951, 193:265-275.
22. Collins J.S., Schwartz C.E. Detecting polymorphisms and mutations in candidate genes. Am J Hum Genet 2002, 71:1251-1252.
23. Anikster Y., Shaag A., Joseph A., et al. Glutaric aciduria type I in the Arab and Jewish communities in Israel. Am J Hum Genet 1996, 59:1012-1018.
24. Goodman S.I., Stein D.E., Schlesinger S., et al. Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. Hum Mutat 1998, 12:141-144.
25. Sass J.O., Ensenauer R., Röschinger W., et al. 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. Mol Genet Metab 2008, 93:30-35.
26. Christensen E., Ribes A., Merinero B., Zschocke J. Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 2004, 27:861-868.