GLYCOGEN STORAGE DISEASES

Question 1

(glucose-6-phosphatase deficiency)→von Gierke Disese

Patient suffers from hypoglycemia and hepatomegaly

Answer 1

Hepatic Form of Abnormal glycogen storage

Question 2

(muscle phosphorylase deficiency)→McArdle Syndrome

muscle cramping/weakness after exercise

Answer 2

Myopathic Form of Abnormal glycogen storage

Question 3

Deficiency of α-glucosidase

Pompe Disease (Type II) – (lysosomal acid maltase deficiency)

Answer 3

Other forms of abnormal glycogen storage

Question 4

deficiency of homogenistic acid oxidase

Black urine

Answer 4

Alkaptonuria