02-03-2014, 06:48 AM
Von Gierke has classic severe fasting hypoglycemia, hyperlipidemia, increased blood lactate levels, and enlarged liver and kidney. Glucose-6-Phosphatase deficiency causes glucose-6-phosphate to be trapped inside glycogen producing tissues (adding a phosphate to glucose causes this 'trapping'). This is why you have enlarged liver and kidney. The liver (and a smaller extent the kidney) has glycogen producing tissues. This is also why you have severe fasting hypoglycemia- because the liver can't release glucose to the periphery from gluconeogenesis.
Fructose-1-Phosphate Aldolase is fructose intolerance. Normally presents when baby switches from breast milk to food. Also presents jaundiced.
Galactose-1-Phosphate-Uridyl Transferase is deficient in Galactosemia. Babies have hepatomegaly, but present with glaucoma, jaundice, mental retardation.
MCAD normally has hypoketotic hypoglycemia. Presents 3-4 hours after meals- this is gluconeogenesis (idk what the exact reasoning is...I just thought this is roughly the 'in between meal' time. And your body uses GNG, not FA breakdown. I think FA breakdown for longer times in between glucose. Like in diabetic ketoacidosis presentations.) Hope it helps!
-Happy studying
Fructose-1-Phosphate Aldolase is fructose intolerance. Normally presents when baby switches from breast milk to food. Also presents jaundiced.
Galactose-1-Phosphate-Uridyl Transferase is deficient in Galactosemia. Babies have hepatomegaly, but present with glaucoma, jaundice, mental retardation.
MCAD normally has hypoketotic hypoglycemia. Presents 3-4 hours after meals- this is gluconeogenesis (idk what the exact reasoning is...I just thought this is roughly the 'in between meal' time. And your body uses GNG, not FA breakdown. I think FA breakdown for longer times in between glucose. Like in diabetic ketoacidosis presentations.) Hope it helps!
-Happy studying