gargoylism

• Sustantivo que designa una enfermedad metabólica hereditaria, concretamente un trastorno autosómico recesivo causado por una alteración del metabolismo de los mucopolisacáridos, que provoca graves anomalías en el desarrollo del cartílago y los huesos, así como discapacidad intelectual.

A noun referring to a hereditary metabolic disorder, specifically an autosomal recessive disease involving an error in mucopolysaccharide metabolism, leading to severe abnormalities in skeletal cartilage and bone development as well as mental retardation.

incontable

1. Hereditary metabolic disorderC2formalmedical

   A rare autosomal recessive disease caused by an error in mucopolysaccharide metabolism, leading to severe skeletal, cartilage, and bone abnormalities, as well as mental retardation.

   Gargolismo (trastorno metabólico hereditario)

   • Gargoylism is characterized by distinctive facial features and skeletal deformities.
   • The diagnosis of gargoylism was confirmed through genetic testing.
   • Treatment for gargoylism focuses on managing symptoms and improving quality of life.

   Sinónimoslipochondrodystrophy