Search on:
ABETALIPOPROTEINEMIA
Descriptors Found:
1
Displaying:
1 .. 1
1 / 1
DeCS
Descriptor
English
:
Abetalipoproteinemia
Descriptor
Spanish
:
Abetalipoproteinemia
Descriptor
Portuguese
:
Abetalipoproteinemia
Synonyms
English
:
Bassen-Kornzweig Syndrome
Microsomal Triglyceride Transfer Protein Deficiency
Tree Number:
C16.320.565.398.500.440.500
C18.452.584.500.875.440.500
C18.452.648.398.500.440.500
Definition
English
:
An autosomal recessive disorder of
lipid metabolism
. It is caused by
mutation
of the microsomal triglyceride transfer protein that catalyzes the transport of
lipids
(
TRIGLYCERIDES
;
CHOLESTEROL ESTERS
;
PHOSPHOLIPIDS
) and is required in the secretion of BETA-LIPOPROTEINS (low density
lipoproteins
or LDL). Features include defective intestinal lipid
absorption
, very low serum
cholesterol
level, and near absent LDL.
History Note
English
:
1966(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:
12
Unique Identifier:
D000012
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS