#inborn_error_of_metabolism  any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
  supertype:  #metabolic_disorder  #genetic_disease
  subtype:  #galactosemia  a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth
  subtype:  #lysinemia  an inborn error of metabolism in which the lack of certain enzymes leads to an inability to metabolize the amino acid lysine; characterized by muscular weakness and mental retardation
  subtype:  #Niemann-Pick_disease  a disorder of lipid metabolism that is inherited as an autosomal recessive trait
  subtype:  #Tay-Sachs_disease__Tay-Sachs__Sachs_disease__infantile_amaurotic_idiocy__infantileamauroticidiocy  a hereditary disorder of lipid metabolism occuring most frequently in individuals of E European Jewish descent; accumulation of lipids in nervous tissue results in death in early childhood
  subtype:  #phenylketonuria__PKU  a genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency

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