Homocystinuria

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Homocystinuria
TermHomocystinuria
Short definitiona genetic disorder in which an enzyme deficiency causes a substance called homocystine to build up in the blood, leading to mental handicap and skeletal abnormalities
TypeMedical term
SpecialtyGeneral
LanguageEnglish
SourceAMA
Comments


Homocystinuria (definition) a genetic disorder in which an enzyme deficiency causes a substance called homocystine to build up in the blood, leading to mental handicap and skeletal abnormalities

==Homocystinuria (overview)==