/inborn errors of metabolism

inborn errors of metabolism

Rare Disease

MONDO:0019052

Also Known As

congenital metabolic disordercongenital metabolism disorderhereditary metabolic diseaseinborn disorders of metabolisminborn error of metabolisminborn errors of metabolisminborn metabolic disorderinborn metabolism disorderinherited disorder of metabolisminherited disorders of metabolisminherited metabolic disordermetabolic hereditary disorderrare inborn errors of metabolismrare inherited metabolic disorderrare metabolic disease

Definition

An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.