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MULTIPLE SULFATASE DEFICIENCY DISEASE
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DeCS
Descriptor
Inglés
:
Multiple Sulfatase Deficiency Disease
Descriptor
Español
:
enfermedad por deficiencia de múltiples sulfatasas
Descriptor
Portugués
:
Doença da Deficiência de Múltiplas Sulfatases
Sinónimos
Inglés
:
Juvenile Sulfatidoses
Juvenile Sulfatidosis
Mucosulfatidosis
Multiple Sulfatase Deficiencies
Multiple Sulfatase Deficiency
Multiple Sulphatase Deficiency Disease
Sulfatidoses, Juvenile
Sulfatidosis Juvenile, Austin Type
Sulfatidosis, Juvenile
Sulfatidosis, Juvenile, Austin Type
Categoría:
C10.228.140.163.100.435.825.850.750
C16.320.565.189.435.825.850.750
C16.320.565.398.641.803.925.750
C16.320.565.595.554.825.850.750
C18.452.132.100.435.825.850.750
C18.452.584.687.803.925.750
C18.452.648.189.435.825.850.750
C18.452.648.398.641.803.925.750
C18.452.648.595.554.825.850.750
Definición
Inglés
:
An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing
lipids
(sulfatides) and
MUCOPOLYSACCHARIDES
. Excess levels of both
substrates
are present in urine. This is a disorder of multiple sulfatase (
arylsulfatases
A, B, and C) deficiency which is caused by the
mutation
of sulfatase-modifying factor-1. Neurological deterioration is rapid.
Nota Histórica
Inglés
:
2007; use SPHINGOLIPIDOSES 2000-2006
Calificadores Permitidos
Inglés
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
DG
diagnostic imaging
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
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
UR
urine
VE
veterinary
VI
virology
Número del Registro:
52109
Identificador Único:
D052517
Ocurrencia en la BVS
:
Similar:
DeCS