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ALPHA-MANNOSIDOSIS
Descriptors Found:
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DeCS
Descriptor
English
:
alpha-Mannosidosis
Descriptor
Spanish
:
alfa-Manosidosis
Descriptor
Portuguese
:
alfa-Manosidose
Synonyms
English
:
Mannosidosis, alpha B, Lysosomal
Tree Number:
C16.320.565.202.607.500
C16.320.565.595.577.500
C18.452.648.202.607.500
C18.452.648.595.577.500
Definition
English
:
An inborn error of
metabolism
marked by a defect in the lysosomal isoform of
ALPHA-MANNOSIDASE
activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all
patients
have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.
See Related
English
:
alpha-Mannosidase
History Note
English
:
2004(1985);
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:
8535
Unique Identifier:
D008363
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS