Fasting and Fat-Loading Tests Provide Pathophysiological Insight into Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Journal of Pediatrics

Volumn 156, Issue 1, 2010, Pages 121-127

  van Maldegem, Bianca T ^a   Duran, Marinus ^a   Wanders, Ronald J A ^a   Waterham, Hans R ^a   de Koning, Tom J ^b   Rubio, Estela ^c   Wijburg, Frits A ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

BUTYRYL COENZYME A DEHYDROGENASE; CARNITINE; ENZYME; ETHYLMALONIC ACID; MALONIC ACID DERIVATIVE; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BUTYRYL COENZYME A DEHYDROGENASE DEFICIENCY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DIET RESTRICTION; DISEASE ASSOCIATION; FEMALE; GENOTYPE; GERMANY; HUMAN; HYPOGLYCEMIA; INBORN ERROR OF METABOLISM; LOADING TEST; MALE; PATHOPHYSIOLOGY; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCHOOL CHILD; URINARY EXCRETION;

ADOLESCENT; BUTYRYL-COA DEHYDROGENASE; CHILD; CHILD, PRESCHOOL; DIETARY FATS, UNSATURATED; FASTING; FEMALE; HUMANS; HYPOGLYCEMIA; INFANT; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; PLANT OILS; RETROSPECTIVE STUDIES;

EID: 72049087720     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2009.07.008     Document Type: Article

References (28)

1. Waisbren S.E., Levy H.L., Noble M., Matern D., Gregersen N., Pasley K., et al. Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms. Mol Genet Metab 95 (2008) 39-45
2. van Maldegem B.T., Duran M., Wanders R.J., Niezen-Koning K.E., Hogeveen M., Ijlst L., et al. Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. JAMA 296 (2006) 943-952
3. Pedersen C.B., Kolvraa S., Kolvraa A., Stenbroen V., Kjeldsen M., Ensenauer R., et al. The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. Hum Genet 124 (2008) 43-56
4. Tein I., Elpeleg O., Ben-Zeev B., Korman S.H., Lossos A., Lev D., et al. Short-chain acyl-CoA dehydrogenase gene mutation (c.319C > T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin. Mol Genet Metab 93 (2008) 179-189
5. Wilcken B., Wiley V., Hammond J., and Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 348 (2003 Jun 5) 2304-2312
6. Maldegem B.T., Waterham H.R., Duran M., Vlies M., Woerden C.S., Bobu L.L., et al. The 625G > A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots. J Inherit Metab Dis 28 (2005) 557-562
7. Nagan N., Kruckeberg K.E., Tauscher A.L., Bailey K.S., Rinaldo P., and Matern D. The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots. Mol Genet Metab 78 (2003) 239-246
8. Corydon M.J., Vockley J., Rinaldo P., Rhead W.J., Kjeldsen M., Winter V., et al. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 49 (2001) 18-23
9. Gregersen N., Winter V.S., Corydon M.J., Corydon T.J., Rinaldo P., Ribes A., et al. Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C → T, is present at an unexpectedly high frequency in the general population, as was the case for 625G → A, together conferring susceptibility to ethylmalonic aciduria. Hum Mol Genet 7 (1998) 619-627
10. Gregersen N., Andresen B.S., and Bross P. Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations. Eur J Pediatr 159 Suppl 3 (2000) S213-S218
11. Olpin S.E. Implications of impaired ketogenesis in fatty acid oxidation disorders. Prostaglandins Leukot Essent Fatty Acids 70 (2004) 293-308
12. Roe C.R., and Ding J. Mitochondrial fatty acid oxidation disorders. In: Scriver C.R., Beaudet A.L., Sly W.S., et al. (Eds). The metabolic and molecular bases of inherited disease (2001), McGraw-Hill, New York Chapter 101
13. Vreken P., van Lint A.E., Bootsma A.H., Overmars H., Wanders R.J., and van Gennip A.H. Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects. J Inherit Metab Dis 22 (1999) 302-306
14. Bikker H., Bakker H.D., Abeling N.G., Poll-The B.T., Kleijer W.J., Rosenblatt D.S., et al. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. Hum Mutat 27 (2006) 640-643
15. Bonnefont J.P., Specola N.B., Vassault A., Lombes A., Ogier H., de Klerk J.B., et al. The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states. Eur J Pediatr 150 (1990) 80-85
16. Blau N., Duran M., Blaskovics M.E., and Gibson K.M. Physician's guide to the laboratory diagnosis of metabolic diseases. 2nd ed. (2005), Springer, New York
17. Costa CC, de A, I, Jakobs C, Poll-The BT, Duran M. Dynamic changes of plasma acylcarnitine levels induced by fasting and sunflower oil challenge test in children. Pediatr Res 1999;46:440-4.
18. Birkebaek N.H., Simonsen H., and Gregersen N. Hypoglycaemia and elevated urine ethylmalonic acid in a child homozygous for the short-chain acyl-CoA dehydrogenase 625G > A gene variation. Acta Paediatr 91 (2002) 480-482
19. Sewell A.C., Herwig J., Bohles H., Rinaldo P., Bhala A., and Hale D.E. A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria. Eur J Pediatr 152 (1993) 922-924
20. Clayton P.T., Eaton S., Aynsley-Green A., Edginton M., Hussain K., Krywawych S., et al. Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. J Clin Invest 108 (2001) 457-465
21. Bodamer O.A., Hussein K., Morris A.A., Langhans C.D., Rating D., Mayatepek E., et al. Glucose and leucine kinetics in idiopathic ketotic hypoglycaemia. Arch Dis Child 91 (2006) 483-486
22. Huidekoper H.H., Duran M., Turkenburg M., Ackermans M.T., Sauerwein H.P., and Wijburg F.A. Fasting adaptation in idiopathic ketotic hypoglycemia: a mismatch between glucose production and demand. Eur J Pediatr 167 (2008) 859-865
23. Bartlett K. Methods for the investigation of hypoglycaemia with particular reference to inherited disorders of mitochondrial beta-oxidation. Baillieres Clin Endocrinol Metab 7 (1993) 643-667
24. Frohlich J., Seccombe D.W., Hahn P., Dodek P., and Hynie I. Effect of fasting on free and esterified carnitine levels in human serum and urine: correlation with serum levels of free fatty acids and beta-hydroxybutyrate. Metabolism 27 (1978) 555-561
25. Leipnitz G., Schuck P.F., Ribeiro C.A., Dalcin K.B., Assis D.R., Barschak A.G., et al. Ethylmalonic acid inhibits mitochondrial creatine kinase activity from cerebral cortex of young rats in vitro. Neurochem Res 28 (2003) 771-777
26. Jethva R., Bennett M.J., and Vockley J. Short-chain acyl-coenzyme A dehydrogenase deficiency. Mol Genet Metab 95 (2008) 195-200
27. National Newborn Screening Status Report. National Newborn Screening and Genetics Resource Center (NNSGRC) Austin, Texas USA. http://genes-r-us.uthscsa.edu/nbsdisorders.pdf. Accessed Aug 5, 2009.
28. Wilcken B., and Wiley V. Newborn screening. Pathology 40 (2008) 104-115