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 0 facts

    An inborn error of metabolism in which the lack of certain enzymes leads to an inability...

  • galactosemia 0 facts

    A genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose...

  • Niemann-Pick disease 0 facts

    A disorder of lipid metabolism that is inherited as an autosomal recessive...

  • phenylketonuria 0 facts

    A genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine...