- Amy T Waldman, MD
Amy T Waldman, MD
- Assistant Professor of Child Neurology
- Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine
- Raphael Schiffmann, MD, MHSc
Raphael Schiffmann, MD, MHSc
- Director of the Institute of Metabolic Disease
- Adjunct Professor of Biomedical Studies
- Baylor University Medical Center
- Section Editors
- Francisco González-Scarano, MD
Francisco González-Scarano, MD
- Section Editor — Multiple Sclerosis; Neurovirology & NeuroAIDS
- John P. Howe, III, MD, Distinguished Chair in Health Policy
- The University of Texas Health Science Center at San Antonio
- Marc C Patterson, MD, FRACP
Marc C Patterson, MD, FRACP
- Section Editor — Pediatric Neurology
- Professor of Neurology, Pediatrics, and Medical Genetics
- Chair, Division of Child and Adolescent Neurology
- Mayo Clinic College of Medicine
Sjögren-Larsson syndrome (SLS; MIM #270200) is an autosomal recessive neurocutaneous disorder caused by an inborn error of metabolism involving fatty alcohol oxidation. The disorder was first described in 1957 by Sjögren and Larsson, who reported a series of 28 patients with a clinical triad of ichthyosis, spastic diplegia or quadriplegia, and intellectual disability (mental retardation, oligophrenia) .
This topic will review the pathogenesis, clinical features, diagnosis, and management of SLS.
SLS is a disorder of fatty alcohol metabolism (figure 1) caused by a deficiency of the enzyme fatty aldehyde dehydrogenase (FALDH), a component of the fatty alcohol:nicotinamide-adenine dinucleotide oxidoreductase (FAO) enzyme complex [2,3].
●Fatty alcohol dehydrogenase (FADH), which catalyzes the oxidation of medium- and long-chain fatty alcohols to fatty aldehydesTo continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
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