Pesquisa sobre:
BARTH SYNDROME
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DeCS
Descritor
Inglês
:
Barth Syndrome
Descritor
Espanhol
:
Síndrome de Barth
Descritor
Português
:
Síndrome de Barth
Sinônimos
Inglês
:
3-methylglutaconicaciduria type 2
3-methylglutaconicaciduria type II
MGA type II
Categoria:
C14.240.400.172
C14.280.400.172
C16.131.077.121
C16.131.240.400.172
C16.320.322.068
C16.320.565.398.224
C18.452.648.398.224
Definição
Inglês
:
Rare congenital X-linked disorder of
lipid metabolism
.
Barth syndrome
is transmitted in an X-linked recessive pattern. The
syndrome
is characterized by muscular weakness,
growth
retardation, DILATED CARDIOMYOPATHY, variable
NEUTROPENIA
, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist.
Relacionados
Inglês
:
Isolated Noncompaction of the Ventricular Myocardium
Nota Histórica
Inglês
:
2010
Qualificadores Permitidos
Inglês
:
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
Número do Registro:
53535
Identificador Único:
D056889
Ocorrência na BVS
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS