1192 prenatal therapy of holocarboxylase synthetase deficiency
1192 prenatal therapy of holocarboxylase synthetase deficiency"
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ABSTRACT A 25y.o. G4P3Ab. woman who had previously delivered at least one and possibly two infants affected with a holocarboxylase synthetase deficiency was given biotin, 10mg p.o. daily
over the last 4 wks. of pregnancy. No attempt at amniocentesis was made because of the late gestational stage of presentation. Twin male infants were delivered by elective C-section at 40
wks. gestation. Fibroblast cultures were begun immediately after birth, assay of which subsequently showed one infant to be normal and the other affected. However, daily monitoring of
organic acids in urine and plasma over the first week of life showed no abnormality in either infant, both of whom appeared phenotypically normal. The subsequent clinical course of the
affected baby has been reported elsewhere and documented clear biotin-responsiveness of the defect in vivo. Biotin measurements provided evidence that biotin administration during late
pregnancy was effective in raising cord blood biotin to 4-7 fold control levels (30-48ng/ml vs. 7.34±0.55ng/ml). We conclude that it is possible to safely and effectively raise fetal blood
biotin to therapeutic levels by oral administration of 10mg daily to the mother, in this case obviating the need for prenatal diagnosis and its attendant risks. ARTICLE PDF AUTHOR
INFORMATION AUTHORS AND AFFILIATIONS * Univ. of Pa. and Univ. of Manitoba Sch Med., Toronto Hosp. for Sick Children, William Yang, Lorraine Allan, Mary Saunders, Roy Gravel, Krishnamurti
Dakshinamurti & Karl S Roth Authors * William Yang View author publications You can also search for this author inPubMed Google Scholar * Lorraine Allan View author publications You can
also search for this author inPubMed Google Scholar * Mary Saunders View author publications You can also search for this author inPubMed Google Scholar * Roy Gravel View author publications
You can also search for this author inPubMed Google Scholar * Krishnamurti Dakshinamurti View author publications You can also search for this author inPubMed Google Scholar * Karl S Roth
View author publications You can also search for this author inPubMed Google Scholar RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Yang, W., Allan, L.,
Saunders, M. _et al._ 1192 PRENATAL THERAPY OF HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. _Pediatr Res_ 15 (Suppl 4), 641 (1981). https://doi.org/10.1203/00006450-198104001-01218 Download
citation * Issue Date: 01 April 1981 * DOI: https://doi.org/10.1203/00006450-198104001-01218 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content:
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