Pesquisa sobre: PROPIONIC ACIDEMIA 
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Descritor Inglês:   Propionic Acidemia 
Descritor Espanhol:   Acidemia Propiónica 
Descritor Português:   Acidemia Propiônica 
Sinônimos Inglês:   Acidemia Propionic
Hyperglycinemia With Ketoacidosis And Leukopenia
Propionic Aciduria
Propionicaciduria
Acidemia Propionics
Acidemia, Propionic
Acidemias, Propionic
Aciduria, Propionic
Acidurias, Propionic
Carboxylase Deficiencies, Propionyl-CoA
Carboxylase Deficiency, Propionyl-CoA
Deficiencies, PCC
Deficiencies, Propionyl-CoA Carboxylase
Deficiency, PCC
Deficiency, Propionyl-CoA Carboxylase
Glycinemias, Ketotic
Hyperglycinemia, Ketotic
Hyperglycinemias, Ketotic
Ketotic Glycinemias
Ketotic Hyperglycinemias
PCC Deficiencies
Propionic Acidemias
Propionic Acidurias
Propionic, Acidemia
Propionicacidemias
Propionicacidurias
Propionics, Acidemia
Propionyl CoA Carboxylase Deficiency
Propionyl-CoA Carboxylase Deficiencies
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
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 do Registro:   53557 
Identificador Único:   D056693 

Ocorrência na BVS: 		 

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