UNIT 4 - GENETIC DEFECTS (CHO) METABOLISM Flashcards
What is the enzyme deficiency in GSD I (Von Gierke Disease)?
Glucose-6-phosphatase.
What are the key clinical features of GSD I?
Severe hypoglycemia, lactic acidosis, hepatomegaly, hypertriglyceridemia, hyperuricemia.
What is the treatment for GSD I (Von Gierke Disease)?
Uncooked cornstarch, frequent feedings, liver/kidney transplant.
What is the enzyme deficiency in GSD II (Pompe Disease)?
Lysosomal acid alpha-glucosidase.
What are the key clinical features of GSD II?
Cardiomyopathy in infancy, skeletal myopathy in juvenile/adult forms, muscle weakness.
What is the treatment for GSD II (Pompe Disease)?
Enzyme replacement therapy (alglucosidase alfa), heart transplant for cardiomyopathy.
What is the enzyme deficiency in GSD III (Cori/Forbes Disease)?
Debrancher enzyme (amyloglucosidase).
What are the key clinical features of GSD III?
Hepatomegaly, muscle weakness, hypoglycemia
What is the treatment for GSD III (Cori/Forbes Disease)?
Uncooked cornstarch, high-protein diet.
What is the enzyme deficiency in GSD IV (Andersen Disease)?
Branching enzyme.
What are the key clinical features of GSD IV?
Progressive cirrhosis, hepatomegaly, muscle atrophy (neuromuscular form).
What is the treatment for GSD IV (Andersen Disease)?
Liver transplantation.
What is the enzyme deficiency in GSD V (McArdle Disease)?
Muscle phosphorylase
What are the key clinical features of GSD V?
Exercise intolerance, muscle cramps, rhabdomyolysis.
What is the treatment for GSD V (McArdle Disease)?
Carbohydrate administration before exercise.
What is the enzyme deficiency in GSD VI (Hers Disease)?
Liver phosphorylase
What are the key clinical features of GSD VI?
Hypoglycemia, hyperlipidemia, hepatomegaly.
What is the treatment for GSD VI (Hers Disease)?
Uncooked cornstarch.
What is the enzyme deficiency in GSD VII (Tarui Disease)?
Phosphofructokinase
What are the key clinical features of GSD VII?
Muscle cramps, rhabdomyolysis, hemolysis.
What is the treatment for GSD VII (Tarui Disease)?
Avoid excessive exercise.
What is the enzyme deficiency in GSD 0?
Glycogen synthase.
What are the key clinical features of GSD 0?
Fasting hypoglycemia, ketosis, postprandial lactic acidosis.
What is the treatment for GSD 0?
Frequent protein-rich meals, uncooked cornstarch at bedtime.
What is the enzyme deficiency in Fanconi-Bickel Syndrome?
Glucose transporter-2.
What are the key clinical features of Fanconi-Bickel Syndrome?
Hepatomegaly, renal Fanconi syndrome, fasting hypoglycemia.
What is the treatment for Fanconi-Bickel Syndrome?
Low-carbohydrate, high-protein diet, electrolyte replacement.
What is the enzyme deficiency in Fructose 1,6-Bisphosphatase Deficiency?
Fructose 1,6-bisphosphatase.
What are the key clinical features of Fructose 1,6-Bisphosphatase Deficiency?
Hypoglycemia, lactic acidosis, ketosis.
What is the treatment for Fructose 1,6-Bisphosphatase Deficiency?
Avoid fasting and fructose-containing foods.
What is the enzyme deficiency in Phosphoenolpyruvate Carboxykinase Deficiency?
Phosphoenolpyruvate carboxykinase.
What are the key clinical features of Phosphoenolpyruvate Carboxykinase Deficiency?
Hypoglycemia, lactic acidosis, hepatomegaly.
What is the treatment for Phosphoenolpyruvate Carboxykinase Deficiency?
Avoid fasting, uncooked cornstarch.
What is another name for GSD I?
Von Gierke Disease.
What is another name for GSD II?
Pompe Disease.
What is another name for GSD III?
Cori Disease or Forbes Disease.
What is another name for GSD IV?
Andersen Disease.
What is another name for GSD V?
McArdle Disease.
What is another name for GSD VI?
Hers Disease.
What is another name for GSD VII?
Tarui Disease.
What is another name for GSD VIII/IX?
Phosphorylase Kinase Deficiency (for GSD IX).
What is another name for GSD 0?
Glycogen Synthase Deficiency.
