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LECITHIN ACYLTRANSFERASE DEFICIENCY
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DeCS
Descriptor
English
:
Lecithin Acyltransferase Deficiency
Descriptor
Spanish
:
Deficiencia de Lecitina Aciltransferasa
Descriptor
Portuguese
:
Deficiência de Lecitina Aciltransferase
Tree Number:
C16.320.565.398.500.330.500
C18.452.584.500.875.330.500
C18.452.648.398.500.330.500
Definition
English
:
An autosomal recessively inherited disorder caused by
mutation
of LECITHIN
CHOLESTEROL
ACYLTRANSFERASE that facilitates the
esterification
of lipoprotein
cholesterol
and subsequent removal from peripheral
tissues
to the liver. This defect results in low HDL-cholesterol level in blood and accumulation of free
cholesterol
in tissue leading to a triad of
CORNEAL OPACITY
, hemolytic
anemia
(
ANEMIA
, HEMOLYTIC), and
PROTEINURIA.
History Note
English
:
91(78); was see under HYPOLIPOPROTEINEMIA 1980-90; was see under HYPOLIPOPROTEINEMIAS 1978-79
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:
8041
Unique Identifier:
D007863
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS