DeCS Server - List Exact Term

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DeCS

Descriptor English:

Refsum Disease

Descriptor Spanish:

Enfermedad de Refsum

Descriptor Portuguese:

Doença de Refsum

Synonyms English:

Heredopathia Atactica Polyneuritiformis
HMSN Type IV
Neuropathy, Hereditary Motor and Sensory, Type IV
Phytanic Acid Storage Disease

Tree Number:

Definition English:

An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES.

Indexing Annotation English:

do not confuse with REFSUM DISEASE, INFANTILE

History Note English:

1996 (1964)

Allowable Qualifiers English:

Record Number:

29306

Unique Identifier:

D012035

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