Synonyms: G6PDH
Clinical significance
G6PDH is an enzyme involved in the breakdown of glucose through the so-called hexose monophosphate shunt. Genetic deficiency of this enzyme causes haemolytic crises after eating certain foods or taking certain classes of medicines (favism).
Clinical indications
Preventive screening of couples planning a pregnancy.
Sample type
The patient must have a blood sample taken.
Preparation
You must fast for at least 8 hours; a small amount of water is allowed. You must have been standing or sitting upright for at least 30 minutes. The patient must not have had a recent transfusion.
Notes
Enzyme activity is higher in young people. The enzyme deficiency is usually difficult to detect in heterozygous females and after a haemolytic crisis.