Holocarboxylase Synthetase DeficiencySymptoms, Doctors, Treatments, Advances & More
Learn About Holocarboxylase Synthetase Deficiency
Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, which is a group of disorders characterized by impaired activity of certain enzymes that depend on biotin.
Mutations in the HLCS gene cause holocarboxylase synthetase deficiency. The HLCS gene provides instructions for making an enzyme called holocarboxylase synthetase. This enzyme is important for the effective use of biotin, a B vitamin found in foods such as liver, egg yolks, and milk. Holocarboxylase synthetase attaches biotin to certain enzymes that are essential for the normal production and breakdown of proteins, fats, and carbohydrates in the body. Mutations in the HLCS gene reduce the enzyme's ability to attach biotin to these enzymes, preventing them from processing nutrients properly and disrupting many cellular functions. These defects lead to the serious medical problems associated with holocarboxylase synthetase deficiency.
The exact incidence of this condition is unknown, but it is estimated to affect 1 in 87,000 people.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Zhenzhu Zheng practices practicing medicine in Quanzhou, China. Zheng is rated as an Elite expert by MediFind in the treatment of Holocarboxylase Synthetase Deficiency. They are also highly rated in 8 other conditions, according to our data. Their clinical expertise encompasses Holocarboxylase Synthetase Deficiency, Primary Carnitine Deficiency, Multiple Carboxylase Deficiency, and Isovaleric Acidemia.
Harbor Medical Clinic
Pavel Polskiy is a primary care provider, practicing in Family Medicine in West Sacramento, California. Dr. Polskiy is rated as a Distinguished provider by MediFind in the treatment of Holocarboxylase Synthetase Deficiency. He is also highly rated in 31 other conditions, according to our data. His clinical expertise encompasses Holocarboxylase Synthetase Deficiency, ZAP70-Related Severe Combined Immunodeficiency, Activated PI3K Delta Syndrome (APDS), and Campylobacter Infection. Dr. Polskiy is board certified in Family Medicine. Dr. Polskiy is currently accepting new patients.
New Horizon Primary Care
Peter Allotey is a primary care provider, practicing in Internal Medicine in Macon, Georgia. Dr. Allotey is rated as a Distinguished provider by MediFind in the treatment of Holocarboxylase Synthetase Deficiency. He is also highly rated in 36 other conditions, according to our data. His clinical expertise encompasses Hypertension, Glucocorticoid-Remediable Aldosteronism, Familial Hypertension, and Vitamin D Deficiency. Dr. Allotey is board certified in American Board Of Internal Medicine, 2005 and American Board Of Internal Medicine. Dr. Allotey is currently accepting new patients.
Published Date: May 01, 2020
Published By: National Institutes of Health