All are inborn error of glycogen metabolism except?
a. Essential fructosuria
b. Phenyl ketonuria
c. Galactosemia
d. Glycogen storage disease
(b) Essential fructosuria is due to aldolase B defect leading to accumulation of fructose-1-P
Galactosemia (serious) is due to decreased Galactose-6-P uridyl transferase leading to decreased glycogen synthesis.
Types of glycogen storage diseases (GSD) include:
Type I (VonGierke's): ↓ G6P
Type II (Pompe's): ↓ lysosomal maltase
Type III (Cori's): ↓debranching enzyme.
Type IV (Anderson's): Absent debranching enzyme
Type V (McArdle's): ↓ muscles phosphorylation.
a. Essential fructosuria
b. Phenyl ketonuria
c. Galactosemia
d. Glycogen storage disease
(b) Essential fructosuria is due to aldolase B defect leading to accumulation of fructose-1-P
Galactosemia (serious) is due to decreased Galactose-6-P uridyl transferase leading to decreased glycogen synthesis.
Types of glycogen storage diseases (GSD) include:
Type I (VonGierke's): ↓ G6P
Type II (Pompe's): ↓ lysosomal maltase
Type III (Cori's): ↓debranching enzyme.
Type IV (Anderson's): Absent debranching enzyme
Type V (McArdle's): ↓ muscles phosphorylation.