Definition that contains inherited disorder
- branched chain ketoaciduria an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood
- osteopetrosis an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated
- hepatolenticular degeneration a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain
- wilson's disease a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain
- abetalipoproteinemia a rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levels
- maple syrup urine disease an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood
- albers-schonberg disease an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated
- marble bones disease an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated