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Red cell
pyruvate kinase deficiency,
firstly identified in the
early 60s by Valentine
and coworkers is the most
frequent enzyme abnormality
of the glycolytic pathway,
causing hereditary
nonspherocytic haemolytic anemia.
The disease is transmitted as
an autosomal recessive trait,
clinical symptoms usually occurring
in compound heterozygotes for two
mutant alleles, and in homozygotes,
restricted to a limited number
of cosanguineous families.
The degree of haemolysis
varies widely,
ranging from very mild or
fully compensated forms
to life-threatening neonatal
anemia and jaundice,
necessitating exchange transfusions.
PK deficiency has a worldwide
geographical distribution.
Over 400 cases have been described,
but many more remain unreported.
The prevalence, as assessed
by gene frequency studies,
has been estimated
to be one to 20,000
in the general wide population.
Erythrocyte PK is synthesized under
the control of the PK-LR gene,
located on chromosome 1.
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In this presentation, we will
first consider the enzyme structure
and function, followed by
genetic characteristics
and clinical, hematological,
and diagnostic aspects
of PK deficiency.
The relation between
molecular defect
and disease severity and
the treatment options
will also be considered.
