Learn About Sialic Acid Storage Disease
Free sialic acid storage disorder (FSASD) is an inherited condition that primarily affects the brain and spinal cord (central nervous system). The signs and symptoms of FSASD can vary from person to person, and the condition is often divided into three forms based on the severity of these features.
Variants (also called mutations) in the SLC17A5 gene cause all the forms of FSASD. This gene provides instructions for producing a protein called sialin. This protein is located on the membranes of lysosomes, which are compartments in the cell that digest and recycle different types of molecules.
Fewer than 300 people with FSASD have been reported in the medical literature. Salla disease is more common among people of Finnish and Swedish descent and has been reported in approximately 150 people.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Aurora Family Medicine
Adel Khdour is a primary care provider, practicing in Family Medicine in Racine, Wisconsin. Dr. Khdour is rated as an Advanced provider by MediFind in the treatment of Sialic Acid Storage Disease. His top areas of expertise are Glucocorticoid-Remediable Aldosteronism, Hypertension, Familial Hypertension, and Maturity Onset Diabetes of the Young.
University Primary Care Practices Inc
Mehrdad Tavallaee is a primary care provider, practicing in Internal Medicine in Conneaut, Ohio. Dr. Tavallaee is rated as an Advanced provider by MediFind in the treatment of Sialic Acid Storage Disease. His top areas of expertise are Glucocorticoid-Remediable Aldosteronism, Hypertension, Familial Hypertension, and Type 2 Diabetes (T2D). Dr. Tavallaee is currently accepting new patients.
University Primary Care Practices Inc
Faranak Zarrabi is a primary care provider, practicing in Internal Medicine in Conneaut, Ohio. Dr. Zarrabi is rated as an Advanced provider by MediFind in the treatment of Sialic Acid Storage Disease. Her top areas of expertise are Sialic Acid Storage Disease, Sialuria, Phosphomannoisomerase Deficiency, and PMM2-Congenital Disorder of Glycosylation. Dr. Zarrabi is currently accepting new patients.
Summary: The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago. Researchers working in the biorepo...
Published Date: September 05, 2024
Published By: National Institutes of Health