Learn About Sjogren-Larsson Syndrome
Sjögren-Larsson syndrome is a condition that affects the skin and eyes as well as the brain and spinal cord (central nervous system).
Variants (also called mutations) in the ALDH3A2 gene cause Sjögren-Larsson syndrome. The ALDH3A2 gene provides instructions for making an enzyme that is part of a multistep process called fatty acid oxidation in which fats are broken down and converted into energy. Specifically, the ALDH3A2 enzyme breaks down molecules called fatty aldehydes into fatty acids.
Sjögren-Larsson syndrome affects approximately 1 in 100,000 individuals in Sweden, where the disease was first identified. Although this disease is found all over the world, the prevalence of Sjögren-Larsson syndrome in other countries is unknown.
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.
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.
UPMC Primary Care
Khyati Kadia, MD, specializes in family medicine and is certified by the American Board of Family Medicine. She practices at Altoona Family Physicians and is affiliated with UPMC Altoona. She completed her residency at University of Illinois College of Medicine at Rockford and medical degree at Windsor University School of Medicine. Dr. Kadia is rated as an Advanced provider by MediFind in the treatment of Sjogren-Larsson Syndrome. Her top areas of expertise are Kenny-Caffey Syndrome Type 2, Campomelic Dysplasia, Winchester Syndrome, and Russell-Silver Dwarfism.
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.
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: December 18, 2025
Published By: National Institutes of Health