Inborn Error Of Metabolism
Of genetic disease and metabolic disorder.
Any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism.
This concept's ID is @1~71290
Contains
- lysinemia
An inborn error of metabolism in which the lack of certain enzymes leads to an inability...
- galactosemia
A genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose...
- Niemann-Pick disease
A disorder of lipid metabolism that is inherited as an autosomal recessive...
- phenylketonuria
A genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine...