Visão selecionada em Inglês
| Descritor em português: | Doença da Deficiência de Piruvato Carboxilase | ||||||
| Descritor em inglês: | Pyruvate Carboxylase Deficiency Disease | ||||||
| Descritor em espanhol: |
Enfermedad por Deficiencia de Piruvato Carboxilasa
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| Descritor em francês: | Déficit en pyruvate carboxylase | ||||||
| Termo(s) alternativo(s): |
Ataxia with Lactic Acidosis 2 Ataxia with Lactic Acidosis II Ataxia with Lactic Acidosis, Type II Deficiency Disease, Pyruvate Carboxylase Deficiency, Pyruvate Carboxylase Lactic Acidosis with Ataxia, Type II Pyruvate Carboxylase Deficiency Type II Ataxia with Lactic Acidosis |
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| Código(s) hierárquico(s): |
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 |
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| Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D015324 | ||||||
| Nota de escopo: | 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) |
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| Qualificadores permitidos: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Indexação Anterior: |
Pyruvate Carboxylase/deficiency (1974-1988) |
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| Nota MeSH pública: | 2000; see PYRUVATE CARBOXYLASE DEFICIENCY 1991-1999; see PYRUVATE METABOLISM, INBORN ERRORS 1989-1990 |
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| Nota histórica: | 2000(1989); use PYRUVATE METABOLISM, INBORN ERRORS 1989-1990 |
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| Versão alternativa: | PYRUVATE CARBOXYLASE DEFIC DIS |
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| Veja também os descritores: |
Pyruvate Carboxylase
MeSH | ||||||
| Identificador DeCS: | 23807 | ||||||
| ID do descritor: | D015324 | ||||||
| Documentos indexados na Biblioteca Virtual em Saúde (BVS): | Clique aqui para acessar os documentos da BVS | ||||||
| Data de estabelecimento: | 01/01/1991 | ||||||
| Data de entrada: | 01/06/1988 | ||||||
| Data de revisão: | 08/07/2013 |
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Pyruvate Carboxylase Deficiency Disease
- Conceito preferido
| Identificador do conceito |
M0023593 |
| Nota de escopo | 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) |
| Termo preferido | Pyruvate Carboxylase Deficiency Disease |
| Termo(s) alternativo(s) |
Ataxia with Lactic Acidosis 2 Ataxia with Lactic Acidosis II Ataxia with Lactic Acidosis, Type II Deficiency Disease, Pyruvate Carboxylase Deficiency, Pyruvate Carboxylase Lactic Acidosis with Ataxia, Type II Pyruvate Carboxylase Deficiency Type II Ataxia with Lactic Acidosis |
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