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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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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