Expresión de búsqueda: PROPIONIC ACIDEMIA 
Descriptores Encontrados: 1
Mostrando: 1 .. 1  

 1 / 1 DeCS     
Descriptor Inglés:   Propionic Acidemia 
Descriptor Español:   Acidemia Propiónica 
Descriptor Portugués:   Acidemia Propiônica 
Sinónimos Inglés:   Acidemia Propionic
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
Glycinemia, Ketotic
Glycinemias, Ketotic
Hyperglycinemia With Ketoacidosis And Leukopenia
Hyperglycinemia, Ketotic
Hyperglycinemias, Ketotic
Ketotic Glycinemia
Ketotic Glycinemias
Ketotic Hyperglycinemia
Ketotic Hyperglycinemias
PCC Deficiencies
PCC Deficiency
Propionic Acidemias
Propionic Aciduria
Propionic Acidurias
Propionic, Acidemia
Propionicacidemia
Propionicacidemias
Propionicaciduria
Propionicacidurias
Propionics, Acidemia
Propionyl CoA Carboxylase Deficiency
Propionyl-CoA Carboxylase Deficiencies
Propionyl-CoA Carboxylase Deficiency  
Categoría:   C16.320.565.100.823
C18.452.648.100.823
Definición Inglés:   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 Inglés:   Methylmalonyl-CoA Decarboxylase
 
Nota Histórica Inglés:   2010 
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:   53557 
Identificador Único:   D056693 

Ocurrencia en la BVS: 		 

Similar:
  
DeCS