The Systemic Mucopolysaccharidoses

Mucopolysaccharide Storage Disease in Three Families of Cats with Arylsulfatase B Deficiency: Leukocyte Studies and Carrier Identification

“…In man, the genetic MPS are a group of well-recognized syndromes resulting from defects in G A G degradation, each syndrome having a characteristic combination of clinical signs, urinary GAG excretion, and a specific lysosomal enzyme deficiency (10, 27,31,34,40,41,46).…”

Prenatal Mucopolysaccharidosis II (Hunter): A Pathogenetic Study

“…Dermatan sulfate which accumulates in the tissues of Hunter patients (4,5) was shown to form complexes in vitro with P-galactosidase (14) and to inhibit its activity (15,21). The inhibition of the enzyme is most expressed towards GM-1 ganglioside degradation (20).…”

“…The disease exists in a severe form with an early onset of the symptoms, severe mental retardation, and physical handicaps (21) and in a mild form with no mental disability and only moderate skeletal dysplasia (25).…”

Errores innatos del metabolismo. Reporte de cuatro casos con mucopolisacaridosis tipo I, II y VI en tres familias / Inborn errors of metabolism. Report of four cases with type I, II and VI mucopolysaccharidosis in three families

“…Recientemente se ha observado este grupo de enfermedades de almacenamiento que tienen los rasgos clínicos y radiológicos de las mucopolisacáridosis y mucopolisacáriduria. (McKusick VA 1972, Spranger J 1972, Sly WS 1980. El modo de herencia para todos los tipos de mucopolisacáridosis descritos hasta ahora es autosómico recesivo, excepto el Tipo II (Sindrome de Hunter), que se hereda en una forma recesiva ligada al cromosoma X.…”