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Description of the Molecular and Clinical Characteristics of the Mucopolysaccharidosis Type VII Iberian Cohort
source: Orphanet journal of rare diseases
year: 2021
authors: Gónzalez-Meneses A,Pineda M,Bandeira A,Janeiro P,Ruiz MÁ,Diogo L,Cancho-Candela R
summary/abstract:Mucopolysaccharidosis type VII (Sly syndrome) is an ultra-rare neurometabolic disorder caused by inherited deficiency of the lysosomal enzyme β-glucuronidase. Precise data regarding its epidemiology are scarce, but birth prevalence is estimated to vary from 0.02 to 0.24 per 100,000 live births. The clinical course and disease progression are widely heterogeneous, but most patients have been reported to show signs such as skeletal deformities or cognitive delay. Additionally, detection criteria are not standardized, resulting in delayed diagnosis and treatment.
organization: Unidad de Dismorfología Y Metabolismo, Hospital Universitario Virgen del Rocío, Avda. Manuel Siurot, s/n, 41013, Seville, Spain. [email protected].DOI: 10.1186/s13023-021-02063-1
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