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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