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. 2011 Nov;141(11):1925-30.
doi: 10.3945/jn.111.146126. Epub 2011 Sep 14.

Urinary excretion of 3-hydroxyisovaleric acid and 3-hydroxyisovaleryl carnitine increases in response to a leucine challenge in marginally biotin-deficient humans

Affiliations

Urinary excretion of 3-hydroxyisovaleric acid and 3-hydroxyisovaleryl carnitine increases in response to a leucine challenge in marginally biotin-deficient humans

Donald M Mock et al. J Nutr. 2011 Nov.

Abstract

Experimentally increasing metabolic flux in a pathway in which an essential step is catalyzed by a vitamin-dependent enzyme (a challenge test) has been used in assessing functional vitamin status and elucidating common and alternate metabolic pathways. Conversion of 3-methylcrotonyl CoA to 3-methylglutaconyl CoA in the leucine catabolic pathway is catalyzed by the biotin-dependent enzyme methylcrotonyl-CoA carboxylase (MCC). Marginal biotin deficiency reduces MCC activity and increases urinary excretion of 3-hydroxyisovaleric acid (3HIA) and 3-hydroxyisovaleryl carnitine (3HIA-carnitine) measured in 24-h urine collections. We assessed urinary excretion of 3HIA and 3HIA-carnitine in response to a leucine challenge in humans made progressively biotin deficient by egg white consumption. In 2 cohorts of healthy adults (Study 1: n = 5; Study 2: n = 7) rendered biotin deficient over 28 d, urinary excretion of 3HIA and 3HIA-carnitine in response to a leucine challenge was quantitated weekly for 3 or 4 wk, respectively. In both studies, mean urinary excretion of both 3HIA and 3HIA-carnitine increased >2-fold by d 14 (P < 0.002 for both indicators for both studies). Diagnostically, both indicators were highly sensitive, but diagnostic sensitivities were not superior to those of 24-h excretion of 3HIA and 3HIA-carnitine. These studies provide evidence that urinary excretions of 3HIA and 3HIA-carnitine in response to an oral leucine challenge are early and sensitive indicators of marginal biotin deficiency in humans. The variability of the proportion of leucine catabolites excreted as 3HIA suggests substantial population heterogeneity in the metabolic capacity of the 3HIA-carnitine detoxification pathway.

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Conflict of interest statement

Author disclosures: D. M. Mock, S. L. Stratton, T. D. Horvath, A. Bogusiewicz, N. I. Matthews, C. L. Henrich, A. M. Dawson, H. J. Spencer, S. N. Owen, G. Boysen, and J. H. Moran, no conflicts of interest.

Figures

FIGURE 1
FIGURE 1
Urinary 3HIA and 3HIA-carnitine responses to leucine challenge (A,C) and in the preceding 24-h urine samples (B,D) increase with biotin depletion in 5 healthy adults (Study 1). The gray rectangle denotes the NR. Solid bars denote mean excretion at d 0 and 28. Asterisks indicate that the mean on that day differs from d 0: *P < 0.02, **P < 0.002, ***P < 0.0005. 3HIA, e-hydroxyisovaleric acid; 3HIA-carnitine, 3-hydroxyisovaleryl carnitine; NR, normal range.
FIGURE 2
FIGURE 2
Urinary 3HIA and 3HIA-carnitine responses to leucine challenge (A,C) and the preceding 24-h urine samples (B,D) increase with biotin depletion in Study 2 (7 participants). The gray rectangle denotes NR. Solid bars denote mean excretion at d 0 and 28. Significance of changes in group mean data were tested by 1-way ANOVA with repeated measures and Dunnett’s post hoc test relative to d 0; *P ≤ 0.02, **P < 0.002, ***P ≤ 0.0009. 3HIA, e-hydroxyisovaleric acid; 3HIA-carnitine, 3-hydroxyisovaleryl carnitine; NR, normal range.

References

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