Refsum Disease Overview
Learn About Refsum Disease
Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms.
More than 90 percent of all cases of Refsum disease result from mutations in the PHYH gene. The remaining cases are caused by mutations in a gene called PEX7.
The prevalence of Refsum disease is unknown, although the condition is thought to be uncommon.
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.
Peter Elias is a Dermatologist in San Francisco, California. Dr. Elias and is rated as an Advanced provider by MediFind in the treatment of Refsum Disease. His top areas of expertise are Atopic Dermatitis, Ichthyosis Vulgaris, Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limbs Defects, and X-Linked Ichthyosis.
Maura Ruzhnikov is a Medical Genetics specialist and a Pediatrics provider in Palo Alto, California. Dr. Ruzhnikov and is rated as an Experienced provider by MediFind in the treatment of Refsum Disease. Her top areas of expertise are Recessive Chondrodysplasia Punctata 1, West Syndrome, Adrenoleukodystrophy (ALD), and CACH Syndrome.
University Healthcare Alliance
Mignonette Willkom is a Family Medicine provider in Livermore, California. Dr. Willkom and is rated as an Experienced provider by MediFind in the treatment of Refsum Disease. Her top areas of expertise are Lymphedema, Primary Intestinal Lymphangiectasia, Meige Disease, and Lymphangiectasis.
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Summary: This single-institution, phase II study is designed to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM) using busulfan- and fludarabine-based conditioning regimens with busulfan therapeutic drug monitoring (TDM) for patients with various inherited metabolic disorders (IMD) and severe osteopetrosis (OP).
Published Date: November 01, 2016
Published By: National Institutes of Health