Plasma concentration of 3-hydroxyisovaleryl carnitine is an early and sensitive indicator of marginal biotin deficiency in humans

American Journal of Clinical Nutrition

Volumn 92, Issue 6, 2010, Pages 1399-1405

  Stratton, Shawna L ^a   Horvath, Thomas D ^a   Bogusiewicz, Anna ^a   Matthews, Nell I ^a   Henrich, Cindy L ^a,b   Spencer, Horace J ^a   Moran, Jeffery H ^a,c   Mock, Donald M ^a  

^a UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^b UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^c ARKANSAS DEPARTMENT OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYISOVALERYLCARNITINE; BIOTIN; CARNITINE DERIVATIVE; EGG WHITE; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; DIAGNOSTIC VALUE; DIETARY INTAKE; EARLY DIAGNOSIS; FEMALE; HUMAN; MALE; VITAMIN BLOOD LEVEL; VITAMIN DEFICIENCY;

ADULT; AGED; BIOLOGICAL MARKERS; BIOTIN; CARBON-CARBON LIGASES; CARNITINE; DEFICIENCY DISEASES; EGG WHITE; FEMALE; HUMANS; MALE; MIDDLE AGED;

EID: 78651265106     PISSN: 00029165     EISSN: 19383207     Source Type: Journal    
DOI: 10.3945/ajcn.110.002543     Document Type: Article

References (36)

1. Mock DM, Stadler DD. Conflicting indicators of biotin status from a cross-sectional study of normal pregnancy. J Am Coll Nutr 1997;16: 252-7.
2. Mock DM, Stadler DD, Stratton SL, Mock NI. Biotin status assessed longitudinally in pregnant women. J Nutr 1997;127:710-6.
3. Velázquez A, Martín-del-Campo C, Báez A, et al. Biotin deficiency in protein-energy malnutrition. Eur J Clin Nutr 1989;43:169-73.
4. Krause K-H, Berlit P, Bonjour J-P. Impaired biotin status in anticonvulsant therapy. Ann Neurol 1982;12:485-6.
5. Krause K-H, Berlit P, Bonjour J-P. Vitamin status in patients on chronic anticonvulsant therapy. Int J Vitam Nutr Res 1982;52:375-85.
6. Krause K-H, KochenW, Berlit P, Bonjour J-P. Excretion of organic acids associated with biotin deficiency in chronic anticonvulsant therapy. Int J Vitam Nutr Res 1984;54:217-22.
7. Mock DM, Dyken ME. Biotin catabolism is accelerated in adults receiving long-term therapy with anticonvulsants. Neurology 1997;49: 1444-7.
8. Mock DM, Mock NI, Lombard KA, Nelson RP. Disturbances in biotin metabolism in children undergoing long-term anticonvulsant therapy. J Pediatr Gastroenterol Nutr 1998;26:245-50.
9. Said HM. Biotin bioavailability and estimated average requirement: why bother? Am J Clin Nutr 1999;69:352-3.
10. Roschinger W, Millington DS, Gage DA, et al. 3-Hydroxyisovalerylcarnitine in patients with deficiency of 3-methylcrotonyl CoA carboxylase. Clin Chim Acta 1995;240:35-51.
11. Van Hove JL, Josefsberg S, Freehauf C, et al. Management of a patient with holocarboxylase synthetase deficiency. Mol Genet Metab 2008;95: 201-5.
12. Wolf B. Disorders of biotin metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease. 8th ed. New York, NY: McGraw-Hill Inc, 2001: 3151-77.
13. Sweetman L, Williams JC. Branched chain organic acidurias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease. 7th ed. New York, NY: McGraw-Hill Inc, 1995:1387-422.
14. Zammit VA, Ramsay RR, Bonomini M, Arduini A. Carnitine, mitochondrial function and therapy. Adv Drug Deliv Rev 2009;61:1353-62.
15. Pande SV. A mitochondrial carnitine acylcarnitine translocase system. Proc Natl Acad Sci USA 1975;72:883-7.
16. Mock NI, Malik MI, Stumbo PJ, Bishop WP, Mock DM. Increased urinary excretion of 3-hydroxyisovaleric acid and decreased urinary excretion of biotin are sensitive early indicators of decreased status in experimental biotin deficiency. Am J Clin Nutr 1997;65:951-8.
17. Mock NI, Mock DM. Use of an improved method for determination of urinary 3-hydroxyisovaleric acid allows earlier detection of biotin deficiency in the rat. Clin Res 1989;37:955A (abstr).
18. Horvath TD, Stratton SL, Bogusiewicz A, Pack L, Moran J, Mock DM. Quantitative measurement of plasma 3-hydroxyisovaleryl carnitine by LC-MS/MS as a novel biomarker of biotin status in humans. Anal Chem 2010;82:4140-4.
19. Mock DM, Henrich CL, Carnell N,Mock NI. Indicators of marginal biotin deficiency and repletion in humans: validation of 3-hydroxyisovaleric acid excretion and a leucine challenge. Am J Clin Nutr 2002;76:1061-8.
20. Mock DM, Quirk JG, Mock NI. Marginal biotin deficiency during normal pregnancy. Am J Clin Nutr 2002;75:295-9.
21. National Research Council. Dietary reference intakes tables - the complete set. In: Food and Nutrition Board Institute of Medicine, eds. Dietary reference intakes. Washington, DC: The National Academies, 2000. Available from: www.iom.edu/Reports/2000/Dietary-Reference-Intakes-for-Thiamin-Riboflavin- Niacin-Vitamin-B6-Folate-Vitamin-B12-Pantothenic-Acid-Biotin-and-Choline.aspx (cited 10 September 2010).
22. Mock DM, Henrich CL, Carnell N, Mock NI, Swift L. Lymphocyte propionyl-CoA carboxylase and accumulation of odd-chain fatty acid in plasma and erythrocytes are useful indicators of marginal biotin deficiency. J Nutr Biochem 2002;13:462-70.
23. Stratton SL, Bogusiewicz A, Mock MM, Mock NI, Wells AM, Mock DM. Lymphocyte propionyl-CoA carboxylase and its activation by biotin are sensitive indicators of marginal biotin deficiency in humans. Am J Clin Nutr 2006;84:384-8.
24. Mock DM, Mock NI. Lymphocyte propionyl-CoA carboxylase activity is an early and sensitive indicator of biotin deficiency in rats, but urinary excretion of 3-hydroxyisopropionic acid is not. J Nutr 2002;132:1945-50.
25. Mock DM, Mock NI, Stewart CW, LaBorde JB, Hansen DK. Marginal biotin deficiency is teratogenic in ICR mice. J Nutr 2003;133:2519-25.
26. SealeyW, Stratton SL, Hansen DK, Mock DM. Marginal maternal biotin deficiency in CD-1 mice reduces fetal mass of biotin-dependent carboxylases. J Nutr 2005;135:973-7.
27. Mock DM. Marginal biotin deficiency is common in normal human pregnancy and is highly teratogenic in the mouse. J Nutr 2009;139:154-7.
28. Zempleni J, Mock D. Marginal biotin deficiency is teratogenic. Proc Soc Exp Biol Med 2000;223:14-21.
29. Velazquez A, Teran M, Baez A, Gutierrez J, Rodriguez R. Biotin supplementation affects lymphocyte carboxylases and plasma biotin in severe protein-energy malnutrition. Am J Clin Nutr 1995;61:385-91.
30. Sealey WM, Teague AM, Stratton SL, Mock DM. Smoking accelerates biotin catabolism in women. Am J Clin Nutr 2004;80:932-5.
31. Strnadova KA, Holub M, Muhl A, et al. Long-term stability of amino acids and acylcarnitines in dried blood spots. Clin Chem 2007;53: 717-22.
32. Shigematsu Y, Bykov IL, Liu YY, et al. Acylcarnitine profile in tissues and body fluids of biotin-deficient rats with and without L-carnitine supplementation. J Inherit Metab Dis 1994;17:678-90.
33. Pasquali M, Monsen G, Richardson L, Alston M, Longo N. Biochemical findings in common inborn errors of metabolism. Am J Med Genet C Semin Med Genet 2006;142C:64-76.
34. Costa CG, Struys EA, Bootsma A, et al. Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography. J Lipid Res 1997;38:173-82.
35. Mardach R, Zempleni J, Wolf B, et al. Biotin dependency due to a defect in biotin transport. J Clin Invest 2002;109:1617-23.
36. Ficicioglu C, Payan I. 3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening. Pediatrics 2006;118:2555-6.