Pyruvate dehydrogenase complex deficiency (Q40050): Difference between revisions

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13 August 2026
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Revision as of 05:42, 13 August 2026

Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterised by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal to later-onset neurological disorders.
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5C53.02
    English
    Pyruvate dehydrogenase complex deficiency
    Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterised by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal to later-onset neurological disorders.

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      CID11:5C53.02
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      dki-india-5C53.02
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      Concluído
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      13 August 2026
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