Pyruvate kinase Deficiencies - 1
Inheritance:
Autosomal
recessive:
Incidence:
Most
common Embden-Meyerhof pathway deficiency
Accounts
for 90% of the enzymopathies in E-M
High
incidence in:
Northern European ancestry
Amish of Mifflin County,
PA
Function of PK:
Catalyst
in conversion of phosphoenolpyruvate to pyruvate with
production of ATP