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pyruvate carboxylase deficiency
Genetics:
- associated with pyruvate carboxylase deficiency
Clinical manifestations:
- lactic acidosis, mental retardation & death
- occurs in three forms:
a) mild or type A
b) severe neonatal or type B
c) a very mild lacticacidemia
Laboratory: lactic acidosis
General
carbohydrate inborn error of metabolism
metabolic brain disease
Database Correlations
OMIM 266150
References
OMIM :accession 266150