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DeCS
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Descriptor English:
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Pyruvate Carboxylase Deficiency Disease
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Descriptor Spanish:
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Enfermedad por Deficiencia de Piruvato Carboxilasa
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Descriptor Portuguese:
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Doença da Deficiência de Piruvato Carboxilase
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Synonyms English:
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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:
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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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Definition English:
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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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See Related English:
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Pyruvate Carboxylase
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History Note English:
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2000(1989); use PYRUVATE METABOLISM, INBORN ERRORS 1989-1990
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Allowable Qualifiers English:
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Record Number:
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23807
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Unique Identifier:
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D015324
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Occurrence in VHL:
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Similar:
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DeCS
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