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The relationship between fetal biotin status and cleft palate in a single pair of fraternal twins
Author(s) -
Stratton Shawna L,
Horvath Thomas D,
Owen Suzanne N,
Moran Jeffery H,
Mock Donald M
Publication year - 2011
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.25.1_supplement.31.3
Marginal biotin deficiency occurs in about half of all normal human pregnancies. In mice, marginal biotin deficiency in the dam causes a high fetal incidence of cleft palate and limb shortening. We examined the relationship between cleft palate and fetal biotin status in one set of fraternal, dichorionic, diamniotic twins. One twin (affected) was born with cleft palate. The other (normal) was born with no defect. In white cells from cord blood, activity of the biotin‐dependent enzyme propionyl‐CoA carboxylase was 4‐fold lower in the affected twin compared to the normal twin. Cord blood plasma concentration of 3‐hydroxyisovaleryl carnitine (which reflects activity of the biotin‐dependent enzyme methylcrotonyl‐CoA carboxylase) was 2‐fold higher in the affected twin compared to the normal twin. These indicators of biotin status provide preliminary evidence that the affected twin was biotin deficient compared to the normal twin. This initial observation warrants further study of larger numbers of normal and affected infants and use of a metabolomics approach to examine the relationship of biotin status to human birth defects. Supported by NIH R37 DK36823 and 26S1; CDC 200‐2007‐21729 and U90/CCU616974‐07.