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ENLipoic Acid Synthetase Deficiency
Alias:
Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency
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Lipoic Acid Synthetase Deficiency, also known as pyruvate dehydrogenase lipoic acid synthetase deficiency, is related to hyperglycinemia, lactic acidosis, and seizures and dihydrolipoamide dehydrogenase deficiency, and has symptoms including apnea, myoclonus and seizures. An important gene associated with Lipoic Acid Synthetase Deficiency is LIAS (Lipoic Acid Synthetase).
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MALACARDS
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