Biotin metabolism defect - A case report
Tóm tắt
Defects in biotin metabolism are mainly associated with either the enzyme Biotinidase or Holocarboxylase synthetase. Defects in either enzymes depletes biotin utilization by the cells. Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. This condition is inherited in an autosomal recessive pattern. We present a case of a 9 year old girl with atypical symptomology as a case holocarboxylase synthetase deficiency, who demonstrated an increased excretion of propionic and methyl malonic acids, with her biotinidase activity being normal. She demonstrated remarkable improvement on biotin supplementation.
Tài liệu tham khảo
Emery Alan EH, Rimoin David L. Emery & Rimoin’s principles and practice of medical genetics. 4th ed. London, New York: Churchill Livingstone, 2002: 2552-3pp.
Morrone A, Malvagia S, Donati MA, Funghini S, Ciani F, Pela I, et al. Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency. Am J Med Genet 2002; 111(1):10–18.
Scriver Charles R. The metabolic & molecular bases of inherited disease; 8th ed. New York: McGraw-Hill, 2001: 3944–3947 pp.
Tang NL, Hui J, Yong CK, Wong LT, Applegarth DA, Vallance HD, et al. A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency. Clin Biochem 2003; 36(2):145–149.
Rao AN, Varma P, Dhanya S. Hyperammonemia Diagnostic Experience at Metabolism Laboratory. Perinatology 2007;9(1):9–13.
Rao AN, Praveen Kumar GS. Biotinidase deficiency-Diagnosis by enzyme assay and a follow-up study. Ind J Clin Biochem 2003:18(2); 23–26.