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Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment.
Clin Chim Acta. 1999 Jun 15; 284(1):59-68.CC

Abstract

Deficiency of holocarboxylase synthetase leads to multiple carboxylase deficiency, which is fatal in the absence of prompt diagnosis and treatment with biotin. In a pregnancy at risk for deficiency of holocarboxylase synthetase, prenatal diagnosis was performed by assay of the enzyme in chorionic villus material. The Km for biotin was 220.8 nmol/l, which was 33 times the control value of 6.6 nmol/l. Biotinyl AMP synthesis was undetectable in cultured chorionic villus material. Prenatal treatment of the mother was begun with 10 mg a day of biotin and continued through pregnancy. There was no accumulation of the characteristic metabolites in the urine at birth and prior to oral treatment of the newborn. Holocarboxylase synthetase activity was undetectable in lymphocytes and in fibroblasts of the newborn. Furthermore, the activities of all three carboxylases in fibroblasts of the infant were deficient. The newborn was clinically well and maintained on biotin treatment after birth at 20 mg per day. Carboxylase activities in lymphocytes were normal or slightly lower than the normal range.

Authors+Show Affiliations

Department of Pediatrics 0830, University of California, San Diego, La Jolla 92093, USA. thuyle@ucsd.eduNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

10437643

Citation

Thuy, L P., et al. "Prenatal Diagnosis of Holocarboxylase Synthetase Deficiency By Assay of the Enzyme in Chorionic Villus Material Followed By Prenatal Treatment." Clinica Chimica Acta; International Journal of Clinical Chemistry, vol. 284, no. 1, 1999, pp. 59-68.
Thuy LP, Jurecki E, Nemzer L, et al. Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment. Clin Chim Acta. 1999;284(1):59-68.
Thuy, L. P., Jurecki, E., Nemzer, L., & Nyhan, W. L. (1999). Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment. Clinica Chimica Acta; International Journal of Clinical Chemistry, 284(1), 59-68.
Thuy LP, et al. Prenatal Diagnosis of Holocarboxylase Synthetase Deficiency By Assay of the Enzyme in Chorionic Villus Material Followed By Prenatal Treatment. Clin Chim Acta. 1999 Jun 15;284(1):59-68. PubMed PMID: 10437643.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment. AU - Thuy,L P, AU - Jurecki,E, AU - Nemzer,L, AU - Nyhan,W L, PY - 1999/8/7/pubmed PY - 1999/8/7/medline PY - 1999/8/7/entrez SP - 59 EP - 68 JF - Clinica chimica acta; international journal of clinical chemistry JO - Clin. Chim. Acta VL - 284 IS - 1 N2 - Deficiency of holocarboxylase synthetase leads to multiple carboxylase deficiency, which is fatal in the absence of prompt diagnosis and treatment with biotin. In a pregnancy at risk for deficiency of holocarboxylase synthetase, prenatal diagnosis was performed by assay of the enzyme in chorionic villus material. The Km for biotin was 220.8 nmol/l, which was 33 times the control value of 6.6 nmol/l. Biotinyl AMP synthesis was undetectable in cultured chorionic villus material. Prenatal treatment of the mother was begun with 10 mg a day of biotin and continued through pregnancy. There was no accumulation of the characteristic metabolites in the urine at birth and prior to oral treatment of the newborn. Holocarboxylase synthetase activity was undetectable in lymphocytes and in fibroblasts of the newborn. Furthermore, the activities of all three carboxylases in fibroblasts of the infant were deficient. The newborn was clinically well and maintained on biotin treatment after birth at 20 mg per day. Carboxylase activities in lymphocytes were normal or slightly lower than the normal range. SN - 0009-8981 UR - https://www.unboundmedicine.com/medline/citation/10437643/Prenatal_diagnosis_of_holocarboxylase_synthetase_deficiency_by_assay_of_the_enzyme_in_chorionic_villus_material_followed_by_prenatal_treatment_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0009-8981(99)00053-4 DB - PRIME DP - Unbound Medicine ER -