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Pyruvate Carboxylase Deficiency

Introduction. A rare disorder1 in 250,000 birthsMainly seen in infants and neonatal period; not adults because it is generally fatal.Symptoms include lethargy, poor feeding, vomiting, seizures, developmental delay, poor muscle tone, or abnormal eye movements. Introduction. Three TypesType A: Nor

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Pyruvate Carboxylase Deficiency

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    1. Pyruvate Carboxylase Deficiency Nicholas Di Tore

    2. Introduction A rare disorder 1 in 250,000 births Mainly seen in infants and neonatal period; not adults because it is generally fatal. Symptoms include lethargy, poor feeding, vomiting, seizures, developmental delay, poor muscle tone, or abnormal eye movements

    3. Introduction Three Types Type A: North American Infant period Moderate lactate elev., normal lactate to pyruvate ratio, developmental delay and mental retardation, survival until adulthood Type B: French phenotype Neonatal High lactate and ammonia levels, abnorm. Lact. to pyruvate ratio, death within first few months Type C: Benign phenotype Mild-to-moderate lactate elevation without neurological symptoms

    4. Pyruvate Carboxylase The deficiency of PCD is in the enzyme, pyruvate carboxylase (PC) PC catalyzes the carboxylation of pyruvate to form oxaloacetate

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