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