Search on: PYRUVATE CARBOXYLASE DEFICIENCY DISEASE 
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Descriptor English:   Pyruvate Carboxylase Deficiency Disease 
Descriptor Spanish:   Enfermedad por Deficiencia de Piruvato Carboxilasa 
Descriptor Portuguese:   Doença da Deficiência de Piruvato Carboxilase 
Synonyms English:   Ataxia with Lactic Acidosis 2
Ataxia with Lactic Acidosis II
Deficiency Disease, Pyruvate Carboxylase
Pyruvate Carboxylase Deficiency
Type II Ataxia with Lactic Acidosis
Deficiency, Pyruvate Carboxylase
Ataxia with Lactic Acidosis, Type II
Lactic Acidosis with Ataxia, Type II  
Tree Number:   C10.228.140.163.100.725
C16.320.565.189.725
C16.320.565.202.810.666
C18.452.132.100.725
C18.452.648.189.725
C18.452.648.202.810.666
C18.452.660.705
Definition English:   An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9) 
See Related English:   Pyruvate Carboxylase
 
History Note English:   2000(1989); use PYRUVATE METABOLISM, INBORN ERRORS 1989-1990 
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:   23807 
Unique Identifier:   D015324 

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