Mucopolysaccharidosis type VII (Sly syndrome)
Autoszomális recesszív
Deficiency of beta-glucuronidase causes glycosaminoglycan storage, presenting as non-immune fetal hydrops or later with coarse features, skeletal changes, enlarged liver and spleen and variable developmental delay.
Mit változtat a diagnózis
Enzyme replacement therapy (vestronidase alfa) is available, and a known familial variant allows prenatal testing.
Vizsgált gének
Más néven
Beta-glucuronidase deficiency; MPS VII; MPS7; MPSVII; Mucopolysaccharidosis Type VII; mucopolysaccharidosis, mps-VII; Sly disease; Sly syndrome
