mucopolysaccharidosis type IIIC

info · Genetic · ICD-10: E76.22

A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1.

Signs and symptoms

Coarse facial features
Intellectual disability
Motor deterioration
Cellular metachromasia
Asymmetric septal hypertrophy
Hernia
Motor delay
Growth abnormality
Ovoid thoracolumbar vertebrae
Hyperactivity

Also known as: Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency; HGSNAT deficiency; Heparan-alpha-glucosaminide N-acetyltransferase deficiency; MPS3C; MPSIIIC