Search on: KETOTIC HYPERGLYCINEMIAS 
Descriptors Found: 1
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Descriptor English:   Propionic Acidemia 
Descriptor Spanish:   Acidemia Propiónica 
Descriptor Portuguese:   Acidemia Propiônica 
Synonyms English:   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  
Tree Number:   C16.320.565.100.823
C18.452.648.100.823
Definition English:   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. 
See Related English:   Methylmalonyl-CoA Decarboxylase
 
History Note English:   2010 
Allowable Qualifiers English:  
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
Record Number:   53557 
Unique Identifier:   D056693 

Occurrence in VHL: 		 

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