Sjogren-Larsson Syndrome Overview
Learn About Sjogren-Larsson Syndrome
Sjögren-Larsson syndrome is a condition characterized by dry, scaly skin (ichthyosis); neurological problems; and eye problems. These symptoms are apparent by early childhood and usually do not worsen with age.
Mutations in the ALDH3A2 gene cause Sjögren-Larsson syndrome. The ALDH3A2 gene provides instructions for making an enzyme called fatty aldehyde dehydrogenase (FALDH). The FALDH enzyme is part of a multistep process called fatty acid oxidation in which fats are broken down and converted into energy. Specifically, the FALDH enzyme breaks down molecules called fatty aldehydes to fatty acids.
Sjögren-Larsson syndrome was first observed in Sweden, where the prevalence of this condition is 1 per 250,000 individuals. Outside Sweden, the prevalence of this condition is unknown.
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.
William Rizzo is a Medical Genetics specialist and a Pediatrics provider in Omaha, Nebraska. Dr. Rizzo is rated as an Elite provider by MediFind in the treatment of Sjogren-Larsson Syndrome. His top areas of expertise are Sjogren-Larsson Syndrome, Zellweger Syndrome, Pompe Disease, and Danon Disease. Dr. Rizzo is currently accepting new patients.
Promedica Central Physicians
Mohammad El Sayyad is a primary care provider, practicing in Family Medicine in Maumee, Ohio. Dr. El Sayyad is rated as an Experienced provider by MediFind in the treatment of Sjogren-Larsson Syndrome. His top areas of expertise are Multisystem Inflammatory Syndrome in Children (MIS-C), COVID-19, Lung Metastases, Gastrostomy, and Endoscopy. Dr. El Sayyad is currently accepting new patients.
Seton Family Of Doctors
Mary Cishek is a Cardiologist and an Advanced Heart Failure and Transplant Cardiologist in Austin, Texas. Dr. Cishek is rated as an Experienced provider by MediFind in the treatment of Sjogren-Larsson Syndrome. Her top areas of expertise are Cardiomyopathy, Dilated Cardiomyopathy (DCM), Heart Failure, Heart Transplant, and Patent Foramen Ovale Repair. Dr. Cishek 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: October 01, 2011
Published By: National Institutes of Health