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5C53.02 Pyruvate dehydrogenase complex deficiency

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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.

synonyms

• Pyruvate dehydrogenase complex deficiency
• Ataxia with lactic acidosis
• PDC - [Pyruvate dehydrogenase complex] deficiency
• pyruvate dehydrogenase deficiency
• ataxia with lactic acidosis 1
• ataxia with lactic acidosis 2
• Pyruvate dehydrogenase complex E1-alpha subunit deficiency
• Pyruvate dehydrogenase complex E1 subunit deficiency
• Pyruvate decarboxylase deficiency
• Pyruvate dehydrogenase complex E1-beta subunit deficiency
• Pyruvate dehydrogenase complex E2 subunit deficiency
• Dihydrolipoyl acetyltransferase deficiency
• Dihydrolipoyl transacetylase deficiency
• Dihydrolipoamide acetyltransferase deficiency
• Dihydrolipolyllysine-residue acetyltransferase
• Lipoate acetyltransferase deficiency
• Lipoate transacetylase deficiency
• Pyruvate dehydrogenase complex E3 subunit deficiency
• Dihydrolipoyl dehydrogenase deficiency
• Dihydrolipoamide dehydrogenase deficiency
• Lipoamide dehydrogenase deficiency
• Lipoamide oxidoreductase deficiency
• Diaphorase deficiency
• Lactic acidosis due to LAD deficiency
• Pyruvate dehydrogenase complex E3-binding protein deficiency
• Pyruvate dehydrogenase phosphatase deficiency
• Phosphopyruvate dehydrogenase phosphatase deficiency
• PDH - [Pyruvate dehydrogenase] phosphatase deficiency

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