Glucose - 6 - PDH

General information:

The disease is genetic and is due to a mutation in a recessive gene for the synthesis of glucose-6-phosphate dehydrogenase found in the X chromosome.

Most men-hemisygotes are inherited, who inherit the pathological gene with the X-chromosome from the mother. The disease is rarely found in female homozygotes.
The enzyme participates in the pentose phosphate cycle of erythrocytes. In the absence thereof, the synthesis of macro-gheric phosphate compounds and reduced glutathione is impaired.
Patients with this deficiency have hemolytic crises. They are caused by a variety of factors: bacon consumption, antimalarial agents (primacin, quinine), chloramphenicol, naphthalene, sulfonamides and others. Often different viral and bacterial agents can also be a provocative factor.

There are two types of enzyme deficiency (A-Africa and B), with Bulgaria reporting to the B-deficient Mediterranean countries where G6FD activity is 8-10% and clinical manifestations are more pronounced.
Laboratory studies have observed normochrome, normocytic anemia. Hb, Ht, erythrocyte values ​​are decreased. After the acute phase, reticulocytosis (increased reticulocyte count) is observed. Other hemolysis indicators are: elevated bilirubin (general and indirect), free Hb in serum, presence of urobininogen in urine.
Reduced enzyme activity of glucose-6-phosphate dehydrogenase (glucose-6-PDH) is observed.

SAMPLE REQUIRED:

Venous blood in the morning in fasting

Keywords:

Glucose, glucose-6-PDH, GFD, hemolytic crisis