pyruvate carboxylase deficiency

Genetics

• associated with pyruvate carboxylase deficiency

Clinical manifestations

• lactic acidosis, mental retardation & death
• occurs in three forms:
  • mild or type A
  • severe neonatal or type B
  • a very mild lacticacidemia

Laboratory

lactic acidosis

More general terms

• carbohydrate inborn error of metabolism
• metabolic brain disease

Database

• OMIM: https://mirror.omim.org/entry/266150