17 Inborn Errors

Hypoglycemia

Glycogen


fatty acid disorders have low ketones

Fructose


baby hypoglycemia has fructose/galactose in urine
Galactose



Acidemia

cause hyperammonemia via shutdown of urea cycle

one of the steps here is disrupted
biotin step disrupted: propionyl acid
B12 step disrupted: methylmalonyl acid




FA





Urea



Mitochondrial

pyruvate converted to acetyl coa in mitochondria



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