Refsum Disease (Infantile) (medical condition): Genetic disease affecting nerve and muscle control.
See also:
Infantile Refsum Disease:
»Introduction: Infantile Refsum Disease
»Symptoms of Infantile Refsum Disease
»Treatments for Infantile Refsum Disease
Refsum Disease (Infantile): An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES.
Source: MeSH 2007
These medical condition or symptom topics may be relevant to medical information for Refsum Disease (Infantile):
Refsum Disease (Infantile): Another name for Infantile Refsum Disease (or close medical condition association).
»Introduction: Infantile Refsum Disease
»Symptoms of Infantile Refsum Disease
»Treatments for Infantile Refsum Disease
Refsum Disease (Infantile): Refsum Disease (Infantile) is listed as a type of (or associated with) the following medical conditions in our database:
Some of the symptoms of Refsum Disease (Infantile) incude:
See full list of 11 symptoms of Refsum Disease (Infantile) (Infantile Refsum Disease)
Treatments for Refsum Disease (Infantile) (Infantile Refsum Disease) include:
Read more about treatments for Refsum Disease (Infantile)
Treatment of Refsum Disease (Infantile): For more treatment information about Refsum Disease (Infantile), see treatment of Infantile Refsum Disease (Refsum Disease (Infantile))
Infantile Refsum disease is a disorder characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the body and by the accumulation of phytanic acid in blood plasma and tissue. Infantile Refsum disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering -- which acts as an insulator -- on nerve fibers in the brain. (Source: excerpt from NINDS Infantile Refsum Disease Information Page: NINDS)
These medical disease topics may be related to Refsum Disease (Infantile):
Source - MeSH 2007
Source - MeSH 2007
The following list attempts to classify Refsum Disease (Infantile) into categories where each line is subset of the next.
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