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

Links to this note

• step 1 Biochemistry
  • 17 Inborn Errors