Pyruvate carboxylase deficiency

Question 1

Forms of defect

Answer 1

1. simple:
moderate lactic acidosis
mental retardation (astrocytes not working properly)

2.complex:
severe lactic acidosis
hepatomegaly, high NH3, high citrate, high lysine
deficiency in urea cycle, lysine metabolism, equilibria in redox state

Question 2

PC defect effects

Answer 2

cori cycle broken
no gluconeogenesis
no OAA- glucose regulation impaired
no OAA- defected energy production
acetyl CoA not oxidized- FA synthesis
high pyruvate conc.- lactate

Question 3

Related deficiencies

Answer 3

hyperammonia
demyelination i brain
biotinidase deficiency
glucose 6 P impaired