#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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