in born errors of metabolism

Question 1

what are the most common glycogen storage disorders

Answer 1

Hers is most, von girke and cori disease

Question 2

what is the deficient enzyme in von girke type 1a

Answer 2

Glucose-6-phosphatase

Question 3

what is the deficient enzyme in von girke type 1b

Answer 3

Glucose-6-phosphatase translocase

Question 4

what are the clinical feature of von girke

Answer 4

Hepatomegaly
Severe fasting hypoglycemia, mild ketosis
Severe hyperlipidemia → doll-like facies
Hyperuricemia
Lactic acidosis
Anemia
Failure to thrive

Question 5

what is the deficient enzyme in pompe disease (another very common disease)

Answer 5

Lysosomal acid maltase deficiency

Question 6

clinical features of pompe disease

Answer 6

Hypertrophic cardiomyopathy and/or conduction blocks
Proximal myopathy
Macroglossia
Failure to thrive

Question 7

what enzyme is def in cori diseae

Answer 7

Glycogen debranching enzyme (performs 2 functions: α-1,6-glucosidase and 4-α-D-glucanotransferase)

Question 8

clinical features of cori

Answer 8

Generalized muscle weakness and/or cramps
Hepatomegaly
Possibly cirrhosis (ascites, splenomegaly)
Mild, fasting hypoglycemia and ketosis
Hyperlipidemia

Question 9

what enzyme for Andersen disease

Answer 9

Glycogen branching enzyme

Question 10

Clinical for Andersen disease

Answer 10

Proximal myopathy
Hepatomegaly
Possibly cirrhosis (ascites, splenomegaly)

Question 11

wha enzyme for McArdle

Answer 11

Muscle phosphorylase (myophosphorylase)

Question 12

Clinical for McArdle

Answer 12

Generalized muscle weakness, exercise intolerance (with a second wind phenomenon): symptoms of muscle fatigue disappear after a period of activity
Rhabdomyolysis and myoglobinuria
Flat venous lactate curve with exaggerated elevations in blood ammonia during exercise

Question 13

what enzyme for Hers

Answer 13

Liver phosphorylase

Question 14

Clinical for Hers

Answer 14

Hepatomegaly
Fasting hypoglycemia and ketosis
Hyperlipidemia