Carbohydrate Metabolism Defects Flashcards
Primary storage molecules in animals
Glucose
Primary storage molecule in plants
Starch
3 errors of galactose metabolism
Galactokinase Deficiency
GALT deficiency
GALE deficiency
3 disorders of fructose metabolism
Fructokinase deficiency
Fructosemis
Fructose 1,6 bisphosphate deficiency
3 types of glycogen storage disease
Von Girke
Pompe
McArdle
Von Girke inheritance and gene
AR, GSD1
Von Girke enzyme deficiency
Glucose-6-phosphatase
Pompe disease inheritance and gene
AR, GAA
Pompe disease enzyme deficiency
Lysosomal acid alpha glucosidase deficiency
McArdle inheritance and gene
AR, PYGM
McArdle enzyme deficiency
Muscle myophosphorylase
GLUT1 deficiency inheritance and gene
AD, SLC2A1
Untreated Galactosemia
Lethargy, poor feeding, vomiting Liver failure Renal dysfunction Cataracts E coi sepsis
Prenatal dx of Galactossemia
Molecular analysis of familial mutation
Untreated Fructokinase Deficiency
Benign
Untreated Fructosemia
Vomiting, lethargy, irritability, seizures
Liver and kidney dusfucntion, hypoglycemia
Liver failure
Untreated Fructose 1,6 Bisphosphatase Deficiency
Life threatening episodes of:
Hypoglycemia, lactic acidosis, hyperventilation
Untreated Von Gierke
Hypoglycemia and lactic acidosis in neonatal period
3-4 months of age: heptomegaly, hypoglycemia, hyperuricemia, hyperlipidemia
Untreated Pompe Disease
Muscle and organ enlargement
Progressive muscle breakdown and weakness
Untreated McArdle Disease
Exercise-induced muscle cramps and pain
Recurrent myoglobinurea can lead to renal failure
Poor exercise capacity, fatigue, poor stamina
Untreated GLUT1 deficiency
Seizures
Dev delay and acquired microcephaly
Complex movement disorders and cognitive impairment
Symptoms increase with fasting/fever/infection
