Pesquisa sobre:
PROPIONIC ACIDEMIA
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DeCS
Descritor
Inglês
:
Propionic Acidemia
Descritor
Espanhol
:
Acidemia Propiónica
Descritor
Português
:
Acidemia Propiônica
Sinônimos
Inglês
:
Glycinemia, Ketotic
Ketotic Glycinemia
Ketotic Hyperglycinemia
PCC Deficiency
Propionicacidemia
Propionyl-CoA Carboxylase Deficiency
Categoria:
C16.320.565.100.823
C18.452.648.100.823
Definição
Inglês
:
Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE
genes
that result in dysfunction of branch chain
amino acids
and of the
metabolism
of certain
fatty acids
. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by
hyperammonemia
,
HYPERGLYCEMIA
,
lethargy
,
vomiting
, HYPOTONIA; and
HEPATOMEGALY
.
Survivors
of the neonatal onset
propionic acidemia
often show developmental retardation, and intolerance to
dietary proteins
. Late-onset form of the
disease
shows mild mental and/or developmental retardation, sometimes without metabolic acidemia.
Relacionados
Inglês
:
Methylmalonyl-CoA Decarboxylase
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:
53557
Identificador Único:
D056693
Ocorrência na BVS
:
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DeCS
CID-10
SciELO
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