Clinical and laboratory characteristics of Biotinidase deficiency in children
Abstract
Biotinidase deficiency is an autosomal recessive disorder of biotin metabolism. The incidence was reported to be approximately 1/60,000. Biotinidase is an enzyme involved in the biotin cycle. Deficiency of this enzyme mainly causes symptoms of the nervous system and skin. Early diagnosis and treatment of biotinidase deficiency can prevent the development of irreversible symptoms of the disease. The diagnosis is based on the absence of enzyme activity in plasma, lymphocytes or fibroblasts.
References
Wolf B, Heard GS, Weissbecker KA, et al. Biotinidase deficiency: initial clinical features and and rapid diagnosis. Ann Neurol, 1985;18:614-7.
Strovel ET, Cowan TM, Scott AI, Wolf B. Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and quideline of the American College of Medical Genetics and Genomics. Genet Med 2017;19(10). Doi: 10.10 /gim.2017.84.
Hart PS, Hymes J, Wolf B. Biochemical and immunological characterization of serum biotinidase deficiency. Am J Hum Genet 1992; 50: 126-136.
Lyon G, Adams RD, Kolodny EH. Neurology of hereditary metabolic diseases of children. Second ed. New York: McGraw-Hill, 1996:76-8.
Haagerup A, Anderson JB, Blichfeldt S, et al: Biotinidase deficiency: two cases of very early presentation. Dev Med Child Neurol 39(12):832-5, 1997
Suchy SF, Mc Voy JS, Wolf B: Neurologic symptoms of biotinidase deficiency: possible explanation. Neurology 35(10):1510-1, 1985.
Suormala T, Fowler B, Jakobs C, et al: Late onset holocarboxylase synthetase-deficiency: pre and postnatal diagnosis and evoluation of effectiveness of antenatal biotin therapy. Eur J Pediatr 157(7):570- 5, 1998
Keywords
биотин
метаболический ацидоз
фермент uşaq
biotin
metabolik asidoz
ferment child
biotin
metabolic acidosis
enzyme