Learn About Sialuria
Sialuria is a rare disorder that affects development. Infants with sialuria are often born with a yellow tint to the skin and the whites of the eyes (neonatal jaundice), an enlarged liver and spleen (hepatosplenomegaly), and unusually small red blood cells (microcytic anemia). They may develop a somewhat flat face and distinctive-looking facial features that are described as "coarse." Temporarily delayed development and weak muscle tone (hypotonia) have also been reported.
Variants (also called mutations) in the GNE gene cause sialuria. The GNE gene provides instructions for making an enzyme found in cells and tissues throughout the body. This enzyme is involved in a chemical pathway that produces sialic acid, which is a simple sugar that attaches to the ends of more complex molecules on the surface of cells. By modifying these molecules, sialic acid influences a wide variety of cellular functions, including cell movement (migration), the attachment of cells to one another (adhesion), signaling between cells, and inflammation.
Fewer than 20 cases of sialuria have been described worldwide. There are probably more people with the disorder who have not been diagnosed, as sialuria can be difficult to detect because of its variable features.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most reported cases have occurred in people with no known history of the disorder in their family. These cases may represent new (de novo) variants in the gene that occur during the formation of reproductive cells (eggs or sperm) in an affected individual's parent or during early embryonic development.
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 Sialuria. His top areas of expertise are Glucocorticoid-Remediable Aldosteronism, Hypertension, Familial Hypertension, and Maturity Onset Diabetes of the Young.
Avenues Specialty Clinic - Internal Medicine
Carolyn Vargas, MD, is a board-certified internal medicine physician at Intermountain Health�s Avenues Specialty Clinic in Salt Lake City, Utah. She supports patients in Salt Lake City, North Salt Lake, Bountiful, and surrounding communities with clinical interests in cardiology, women�s health, nutrition, diabetes, and more. She particularly enjoys working on cardiac cases, as she has always had a fascination with the heart.As a healthcare provider, Dr. Vargas is committed to supporting her patients throughout their wellness journey, allowing the patient to take the lead while she offers guidance along the way. She is a strong believer in preventative care. She doesn�t like chasing her tail to fix what should never have occurred and instead establishing safeguards to support lifelong health for her patients.Born in Glendale, CA but raised in Pasadena, Dr. Vargas enjoys gardening, hiking, and exploring her neck of the woods. Her priorities outside of the clinic are God and family. Dr. Vargas is rated as an Advanced provider by MediFind in the treatment of Sialuria. Her top areas of expertise are Autosomal Dominant Hypocalcemia, Sialuria, PMM2-Congenital Disorder of Glycosylation, and Phosphomannoisomerase Deficiency.
Hussam Kujok is a primary care provider, practicing in Internal Medicine in Carmichael, California. Dr. Kujok is rated as a Distinguished provider by MediFind in the treatment of Sialuria. His top areas of expertise are Sialuria, Phosphomannoisomerase Deficiency, Sialic Acid Storage Disease, and PMM2-Congenital Disorder of Glycosylation. Dr. Kujok 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: March 06, 2024
Published By: National Institutes of Health