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HEREDOPATHIA ATACTICA POLYNEURITIFORMIS
Descriptors Found:
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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
C16.320.400.375.780
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
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology
PC
prevention & control
PX
psychology
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Record Number:
29306
Unique Identifier:
D012035
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS