#metabolic_disorder__metabolicdisorder  a disorder or defect of metabolism
  supertype:  #disorder.state__upset  condition in which there is a disturbance of normal functioning; "the doctor prescribed some medicine for the disorder"; "everyone gets stomach upsets from time to time"
  subtype:  #alkaptonuria__alcaptonuria  a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine
  subtype:  #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
     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
  subtype:  #lipidosis__lipidosi  a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body
     subtype:  #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
     subtype:  #Gaucher's_disease  a rare chronic disorder of lipid metabolism probably of genetic origin
     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:  #lysine_intolerance  a disorder in which a lack of certain enzymes makes it impossible to digest the amino acid lysine
  subtype:  #hyperlipoproteinemia  any of various disorders of lipoprotein and cholesterol metabolism that result in high levels of lipoprotein and cholesterol in the circulating blood
     subtype:  #hyperbetalipoproteinemia  a genetic disorder characterized by high levels of beta-lipoproteins and cholesterol; can lead to atherosclerosis at an early age
  subtype:  #hypolipoproteinemia  any of various disorders of lipoprotein and cholesterol metabolism that result in low levels of lipoprotein and cholesterol in the circulating blood
     subtype:  #hypobetalipoproteinemia  a hereditary disorder characterized by low levels of beta-lipoproteins and lipids and cholesterol
        subtype:  #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

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