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REFSUM DISEASE
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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:
C10.228.140.163.100.680.760
C10.500.300.780
C10.574.500.495.780
C10.668.829.800.300.780
C16.131.666.300.780
C16.320.400.400.780
C16.320.565.189.680.760
C16.320.565.663.760
C18.452.132.100.680.760
C18.452.648.189.680.760
C18.452.648.663.760
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
:
blood
cerebrospinal fluid
chemically induced
classification
complications
diet therapy
diagnosis
drug therapy
economics
ethnology
embryology
enzymology
epidemiology
etiology
genetics
history
immunology
metabolism
microbiology
mortality
nursing
pathology
prevention & control
physiopathology
parasitology
psychology
radiography
rehabilitation
radionuclide imaging
radiotherapy
surgery
therapy
ultrastructure
urine
ultrasonography
veterinary
virology
Record Number:
29306
Unique Identifier:
D012035
Occurrence in VHL
:
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