mucopolysaccharidosis type IIIA

A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q2

A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3.

Signs and symptoms

• Sleep disturbance
• Global developmental delay
• Recurrent upper respiratory tract infections
• Diarrhea
• Seizure
• Asymmetric septal hypertrophy
• Coarse facial features
• Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity
• Growth abnormality
• Ovoid thoracolumbar vertebrae

Also known as: MPS3A; MPSIIIA; Sanfilippo syndrome type A; heparan sulfamidase deficiency; mucopolysaccharidosis III-A