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ADRENOMYELONEUROPATHY
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DeCS
Descriptor
English
:
Adrenoleukodystrophy
Descriptor
Spanish
:
Adrenoleucodistrofia
Descriptor
Portuguese
:
Adrenoleucodistrofia
Synonyms
English
:
Adrenomyeloneuropathy
Schilder-Addison Complex
X-Linked Adrenoleukodystrophy
Tree Number:
C10.228.140.163.100.362.250
C10.228.140.163.100.680.100
C10.228.140.695.625.250
C10.228.518.625.250
C10.314.400.250
C10.597.606.643.455.124
C16.320.322.500.124
C16.320.400.525.124
C16.320.565.189.362.250
C16.320.565.189.680.100
C16.320.565.663.112
C18.452.132.100.362.250
C18.452.132.100.680.100
C18.452.648.189.362.250
C18.452.648.189.680.100
C18.452.648.663.112
C19.053.500.270
Definition
English
:
An X-linked recessive disorder characterized by the accumulation of saturated very long chain
fatty acids
in the
LYSOSOMES
of
ADRENAL CORTEX
and the white matter of
CENTRAL NERVOUS SYSTEM
. This
disease
occurs almost exclusively in the males. Clinical features include the childhood onset of
ATAXIA
;
NEUROBEHAVIORAL MANIFESTATIONS
;
HYPERPIGMENTATION
;
ADRENAL INSUFFICIENCY
;
SEIZURES
;
MUSCLE SPASTICITY
; and
DEMENTIA
. The slowly progressive
adult
form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the
adrenoleukodystrophy
protein (
ATP-BINDING CASSETTE TRANSPORTERS
).
Indexing Annotation
English
:
do not confuse with
ADRENOLEUKODYSTROPHY
, NEONATAL see
PEROXISOMAL DISORDERS
See Related
English
:
ATP-Binding Cassette Transporters
History Note
English
:
1991(1983)
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:
328
Unique Identifier:
D000326
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS