| Descriptor English: | Pyruvate Carboxylase Deficiency Disease | ||||||
| Descriptor Spanish: |
Enfermedad por Deficiencia de Piruvato Carboxilasa
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| Descriptor Portuguese: | Doença da Deficiência de Piruvato Carboxilase | ||||||
| Descriptor French: | Déficit en pyruvate carboxylase | ||||||
| Entry term(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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| Tree number(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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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D015324 | ||||||
| Scope note: | 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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| Allowable Qualifiers: |
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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| Previous Indexing: |
Pyruvate Carboxylase/deficiency (1974-1988) |
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| Public MeSH Note: | 2000; see PYRUVATE CARBOXYLASE DEFICIENCY 1991-1999; see PYRUVATE METABOLISM, INBORN ERRORS 1989-1990 |
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| History Note: | 2000(1989); use PYRUVATE METABOLISM, INBORN ERRORS 1989-1990 |
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| Entry Version: | PYRUVATE CARBOXYLASE DEFIC DIS |
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| Related: |
Pyruvate Carboxylase
MeSH | ||||||
| DeCS ID: | 23807 | ||||||
| Unique ID: | D015324 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1991/01/01 | ||||||
| Date of Entry: | 1988/06/01 | ||||||
| Revision Date: | 2013/07/08 |
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Pyruvate Carboxylase Deficiency Disease
- Preferred
| Concept UI |
M0023593 |
| Scope note | 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) |
| Preferred term | Pyruvate Carboxylase Deficiency Disease |
| Entry term(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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