Storage diseases by enzyme deficiency

Question 1

alpha-galactosidase A

Answer 1

• Fabry’s disease
• X-linked recessive
• angiokeratomas, renal insufficiency, cardiac failure
• vacuolated myocytes
• EM: intralysosomal dense lamellae (zebra bodies)

Question 2

Alpha-glucosidase deficiency

Answer 2

Pompe’s disease Glycogen storage disease

Question 3

Homogentisate 1,2-dioxygenase

Answer 3

Ch 3q2 Alkaptonuria Inc homogentisicmacid (metabolite of tyrosine and Phenylalanine Is secreted in urine and accumulates in connected tissue (looks blue-black, Fontana-Masson +, Prussian blue neg)