What is Refsum syndrome?

Adult Refsum disease (ARD) is a rare genetic disease that causes weakness or numbness of the hands and feet (peripheral neuropathy). Due to a genetic abnormality, people with ARD disease lack the enzyme in peroxisomes that break down phytanic acid, a type of fat found in certain foods.

Is Refsum disease genetic?

Refsum disease is an autosomal recessive genetic disorder. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent.

What is Heredopathia Atactica Polyneuritiformis?

Arch Neurol. 1981;38(10):605-606. doi:10.1001/archneur.1981.00510100033003. Heredopathia atactica polyneuritiformis (phytanic-acid storage disease, Refsum’s disease) is an inborn error of metabolism, in which the body accumulates exogenous phytanic acid.

What is Laurence Moon Biedl syndrome?

The so-called Laurence-Moon-Biedl syndrome is a fairly rare1 condition characterized by six cardinal signs, namely obesity, atypical retinitis pigmentosa, mental deficiency, genital dystrophy, polydactylism and familial occurrence.

Is Zellweger neurological?

Since the metabolic and neurological abnormalities that cause the symptoms of Zellweger syndrome are caused during fetal development, treatments to correct these abnormalities after birth are limited. Most treatments are symptomatic and supportive. The prognosis for infants with Zellweger syndrome is poor.

What are the mutations in the Refsum gene?

Refsum disease can result from mutations in the PHYH gene or the PEX7 gene and is inherited in an autosomal recessive pattern. [1] This table lists symptoms that people with this disease may have.

Where can I find information on Refsum disease?

Genetics Home Reference (GHR) contains information on Refsum disease. This website is maintained by the National Library of Medicine. The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders.

What do you need to know about GeneReviews?

GeneReviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.

How is Refsum disease an autosomal recessive disease?

Refsum disease is one of a family of genetic disorders known as the leukodystrophies in which, as a consequence of the disruption of lipid metabolism, the myelin sheath that insulates and protects the nerves of the brain fails to grow. It is inherited as an autosomal recessive trait.