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DeCS
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Descriptor English:
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Pyruvate Dehydrogenase Complex Deficiency Disease
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Descriptor Spanish:
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Enfermedad por Deficiencia del Complejo Piruvato Deshidrogenasa
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Descriptor Portuguese:
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Doença da Deficiência do Complexo de Piruvato Desidrogenase
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Synonyms English:
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Ataxia with Lactic Acidosis
Ataxia with Lactic Acidosis I
Ataxia, Intermittent, with Abnormal Pyruvate Metabolism
Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency
Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency
Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease
Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease
PDH Deficiency
PDHC Deficiency
PDHC Deficiency Disease
Pyruvate Decarboxylase Deficiency
Pyruvate Dehydrogenase Complex Deficiency
Pyruvate Dehydrogenase Complex Deficiency Disease, Juvenile
Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal
Pyruvate Dehydrogenase Deficiency
Type I Ataxia with Lactic Acidosis
Deficiency, PDH
Deficiency, PDHC
Deficiency, Pyruvate Decarboxylase
Deficiency, Pyruvate Dehydrogenase
Ataxia with Lactic Acidosis, Type I
Lactic Acidosis with Ataxia, Type I
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Tree Number:
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C10.228.140.163.100.750
C10.597.606.643.455.875
C16.320.322.500.875
C16.320.400.525.875
C16.320.565.189.750
C16.320.565.202.810.766
C18.452.132.100.750
C18.452.648.189.750
C18.452.648.202.810.766
C18.452.660.710
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Definition English:
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An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE. |
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See Related English:
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Leigh Disease
Pyruvate Dehydrogenase Complex
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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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23808
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Unique Identifier:
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D015325
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Occurrence in VHL:
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Similar:
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DeCS CID-10 LILACS
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