Mucopolysaccharidosis type III (MPS3) is an autosomal recessive lysosomal storage disorder caused by a defect in one of the four enzyme genes involved in glycosaminoglycan degradation. The defect results in the accumulation of heparan sulfate in many organs, as well as elevated metabolite levels in urine. Common signs and symptoms include mental retardation, behavior and aggression problems, and seizures.
Category
Congenital disorder of metabolism; Lysosomal storage disease
Brite
Human diseases [BR:br08402]
Congenital disorders of metabolism
Congenital disorders of glycan/glycoprotein metabolism
H00130 Mucopolysaccharidosis type III
Lysosomal storage diseases
H00130 Mucopolysaccharidosis type III
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C56 Lysosomal diseases
H00130 Mucopolysaccharidosis type III
