Biotin metabolism defect - A case report |
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| Authors: | Ananth N Rao Rajesh B Iyer J Kavitha Minakshi Koch Kumar V Suresh |
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| Institution: | (1) Metabolism Laboratory, Narayana Hrudayalaya, Bangalore, India;(2) Department of Neurology, Narayana Hrudayalaya, Bangalore, India;(3) Metabolism Laboratory, Narayana Hrudayalaya, Bangalore, 560099, India |
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| Abstract: | 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. |
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| Keywords: | Biotin Metabolism Holocarboxylase Inherited disorder Autosomal recessive |
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