Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III).

ABSTRACT:

Background

Mucopolysaccharidosis (MPS) type III (Sanfilippo syndrome) comprises a group of rare, lysosomal storage diseases caused by the deficiency of one of four enzymes involved in the degradation of heparan sulfate. The clinical hallmark of the disease is severe neurological deterioration leading to dementia and death in the second decade of life. Adult MPS patients are generally of short stature. To date there is no clear description of the physical development of MPS III patients. The aim of this study was to document growth reference data for MPS III patients. We collected growth data of 182 German MPS III patients and were able to develop growth charts for this cohort. Growth curves for height, weight, head circumference, and body mass index were calculated and compared to

SUBMITTER: Muschol NM 

PROVIDER: S-EPMC6498678 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature