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Мукополісахаридоз, тип 1

ORPHA:579· ICD-10 E76.0· Mucopolysaccharidosis type 1

Визначення(English summary)

Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype.

Поширеність
1-9 / 1 000 000
Успадкування
Autosomal recessive
Вік початку
All ages