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      "name": "Creative Commons Attribution 4.0 International"
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      "Date": "2026-06-23 07:53:50",
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      "Preferred term": "Pyruvate dehydrogenase deficiency",
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        {
          "Definition": "Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency."
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      ],
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        "PDHC",
        "Pyruvate dehydrogenase complex deficiency"
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