mucopolysaccharidosis type IIIB

info · Genetic · ICD-10: E76.22

A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.

Signs and symptoms

Intellectual disability
Reduced tissue alpha-N-acetylglucosaminidase activity
Dysostosis multiplex
Progressive neurologic deterioration
Hearing impairment
Seizure
Asymmetric septal hypertrophy
Sleep disturbance
Hepatomegaly
Coarse facial features

Also known as: MPS3B; MPSIIIB; Mucopoly-saccharidosis type 3B; Mucopolysaccharidosis type 3B; N-acetyl-alpha-glucosaminidase deficiency