gargoylism

• Substantivo que designa uma doença metabólica hereditária, mais especificamente um distúrbio autossômico recessivo do metabolismo dos mucopolissacarídeos, que causa anomalias graves do desenvolvimento da cartilagem esquelética e dos ossos, além de deficiência 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.

incontável

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.

   Distúrbio metabólico hereditário

   • 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.

   Sinônimoslipochondrodystrophy