inborn error of metabolism: Quick Facts

Written and fact-checked by

The Information Architects of Encyclopaedia Britannica

Photos

Figure 1: Pathological sequence of inborn errors of metabolism.

Figure 4: Enzyme defects in disorders of the amino acids phenylalanine and tyrosine.

See All Images →

Topics

cystic fibrosis fructose 1,6-diphosphatase deficiency hereditary fructose intolerance lactase deficiency mucopolysaccharidosis methylmalonic acidemia variegate porphyria familial dysbetalipoproteinemia isovaleric acidemia propionic acidemia Duchenne muscular dystrophy sickle cell anemia thalassemia mitochondrial disease Marfan syndrome hemoglobinopathy dwarfism osteogenesis imperfecta neurofibromatosis achondroplasia

44 Questions from Britannica’s Most Popular Health and Medicine Quizzes

A Yorkshire terrier dressed up as a veterinarian or doctor on a white background. (dogs)

A Visit with the Word Doctor: Medical Vocabulary Quiz