metabolic disorder

a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine

any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism

a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body

a disorder in which a lack of certain enzymes makes it impossible to digest the amino acid lysine

any of various disorders of lipoprotein and cholesterol metabolism that result in high levels of lipoprotein and cholesterol in the circulating blood

any of various disorders of lipoprotein and cholesterol metabolism that result in low levels of lipoprotein and cholesterol in the circulating blood

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

a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth

a rare chronic disorder of lipid metabolism of genetic origin

a genetic disorder characterized by high levels of beta-lipoproteins and cholesterol; can lead to atherosclerosis at an early age

a hereditary disorder characterized by low levels of beta-lipoproteins and lipids and cholesterol

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

a disorder of lipid metabolism that is inherited as an autosomal recessive trait

a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood

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