Inborn errors of metabolism: Review and data from a tertiary care center.

Inherited metabolic disorders are a heterogeneous group of genetic conditions mostly occurring in childhood. They are individually rare but collectively numerous, causing substantial morbidity and mortality. We have retrospectively reviewed a total of eight hundred and sixty nine cases with different age groups that had been referred from several diagnostic centers and hospitals of India to the Department of Metabolism in Narayana Hrudayalaya, as cases suspected with inborn errors of metabolism.

Biotin metabolism defect - A case report.

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.