Question

Autosomal recessive lysosomal storage disorder -- beta-glucocerebrosidase deficiency -- pancytopenia & hepatosplenomegaly

Answer 1

This question is about a genetic disorder called glucose-6-phosphate dehydrogenase (G6PD) deficiency characterized by a deficiency in the enzyme beta-glucocerebrosidase, leading to symptoms such as pancytopenia and hepatosplenomegaly.

Step-by-step explanation:

This question is about a genetic disorder called glucose-6-phosphate dehydrogenase (G6PD) deficiency. G6PD deficiency is an autosomal recessive lysosomal storage disorder characterized by a deficiency in the enzyme beta-glucocerebrosidase. This deficiency leads to symptoms such as pancytopenia (low levels of all blood cells) and hepatosplenomegaly (enlargement of the liver and spleen).

G6PD deficiency results in an abnormal breakdown of red blood cells, leading to anemia. It most commonly affects African-American males. Female carriers can also be affected due to random inactivation of an X-chromosome in certain cells. Although G6PD deficiency is primarily associated with red blood cell abnormalities, it can also affect other tissues and organs.