lipoic acid synthetase deficiency (Q55784330)

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disease
  • PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY
  • PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY; PDHLD
  • PDHLD
  • HGCLAS
  • Hyperglycinemia, lactic acidosis, and seizures
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Language Label Description Also known as
English
lipoic acid synthetase deficiency
disease
  • PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY
  • PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY; PDHLD
  • PDHLD
  • HGCLAS
  • Hyperglycinemia, lactic acidosis, and seizures

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