Phosphoglycerate kinase deficiency

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Phosphoglycerate kinase deficiency

Acronym: PGK
ORPHANET code: 713
OMIM code: 300653
ICD-10 code: D55.2
Group: Red cell enzymopathies

PGK is a key enzyme of the glycolytic pathway, involved in the production of ATP (energy). The PGK gene coding for this enzyme is located on the X-chromosome. PGK deficiency is a cause of chronic haemolytic anaemia and myoglobinuria.

  • What causes the disease and how common is it?
    This deficiency is very rare, and only 26 unrelated families have been reported so far.

    Since the PGK is a X-chromosome-linked mutation, hemizygous males and homozygous or compound heterozygotes females have reduced enzyme activity. Heterozygous females show variable enzyme expression depending on the pattern of X-chromosomes inactivation (lyonization).
  • What are the most frequent symptoms if I have the disease?
    PGK deficiency is characterized by chronic haemolytic anaemia (often fully compensated), central nervous system dysfunction (neurological disorder), and myopathy (muscle weakness and pain) with recurrent myoglobinuria (dark urine).
  • Which treatment must I follow if I have the disease?
    In cases of severe chronic anaemia, regular blood transfusions are required. Spleen removal (splenectomy) may improve the clinical status in these cases.
  • What is the risk of passing the condition on to my children?
    Since this is a genetic disease linked to X chromosome, there are different parental combinations that may lead to an affected child, as following:
Mother: Healthy carrier
Father: Healthy
Female: 50% Healthy /50% Healthy carrier
Male: 50% Healthy/ 50% Affected
Mother: Healthy
Father: Affected
Female: 50% Healthy /50% Healthy carrier
Male: 100% Healthy
Mother: Healthy carrier
Father: Affected
Female: 50% Healthy carrier/50% Affected
Male: 50% Healthy/ 50% Affected
Mother: Affected
Father: Affected
Female: 100% Affected
Male: 100% Affected
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