Clinicals E1

Question 1

von Gierke’s disease, GSD I, Type I Glycogenesis, hepatorenal glycogenosis

Answer 1

• deficiency in glucose-6-phosphatase (enzyme abundant in kidney and liver)
• liver cannot release glucose from glycogen into blood
• hepatomegaly, (no glucose released->) hypoglycemia, lactic acidosis

Question 2

McArdle’s disease, muscle phosphorylase deficiency

Answer 2

• myophosphorylase deficiency
• accumulation of glycogen in skeletal muscle
• musle cramps and weakness during exercise
• post-exercise rhabdomyolysis with myoglobinuria; often does not present into adulthood and can be managed

Question 3

Pompe’s disease, GSD II, acid maltase deficiency (AMD)

Answer 3

• deficiency of acid alpha-glucosidase
• accumulation of glycogen in lysosomes in muscle (Cardiac and skeletal) clinically the worst
• doll-face

Question 4

I cell Disease

Answer 4

Defective phosphotransferase

• no mannose 6- phosphate production
• lysosomal enzymes aren’t targeted to lysosomes
• coarse facial
• hepatosplenmegaly

Question 5

PCD

Answer 5

defect in dynein

-Chronic infections respiratory, sinus, reproduction problems ( motility of sperm and egg)

Question 6

PCD may develop

Answer 6

hydrocephalus internus: accumulation of fluid in the brain. Ependymal cilia in brain is affected

• bronchiectasis: permanant dilation of bronchi
• situs inversus: inverted organs

Question 7

Primitive streak

Answer 7

structure that forms in the blastula during the early stages of avian, reptilian and embryonic development.

• monocilia can’t sweep Shh
• inverted organs