Holocarboxylase synthetase deficiency

Holocarboxylase synthetase (HLCS) deficiency is an inherited disease characterized by vomiting, lethargy, developmental delays, and hypotonia when untreated. It involves abnormalities in the enzyme holocarboxylase synthetase, which uses the vitamin biotin for the normal processing of proteins, fats, and carbohydrates. Symptoms are due to the toxic build-up of these substances in the body. Holocarboxylase synthetase deficiency is also called multiple carboxylase deficiency. View testing options