Refsum disease

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Refsum disease

Synonyms: Adult Refsum disease | Classic Refsum disease | HMSN 4 | HMSN IV | Hereditary motor and sensory neuropathy type 4 | Hereditary motor and sensory neuropathy type IV | Heredopathia atactica polyneuritiformis | Phytanic-CoA hydroxylase deficiency

A metabolic disease characterized by anosmia cataract early-onset retinitis pigmentosa and possible neurological manifestations including peripheral neuropathy and cerebellar ataxia. Other features can be deafness ichthyosis skeletal abnormalities and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Advocacy Organizations

Global DARE Foundation

Global DARE Foundation's mission is to promote world-wide awareness and better quality of life for all who are diagnosed with Adult Refsum Disease

Aicardi-Goutieres Syndrome Advocacy Association

AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with Aicardi-Goutières Syndrome and those yet to be diagnosed. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life through accelerating research and providing timely emotional and educational support alongside evolving clinical care recommendations to affected families.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

National Ataxia Foundation

The National Ataxia Foundation (NAF) was established in 1957 to help persons with Ataxia and their families. Our mission is to accelerate the development of treatments and a cure while working to improve the lives of those living with Ataxia. NAF’s vision of a world without Ataxia will be accomplished through our primary programs of funding Ataxia research, providing vital programs and services fo

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Clinical Trials

For a list of clinical trials in this disease area, please click here.