Home > D. Systemic pathology > Genetic and developmental anomalies > Genetic metabolic diseases > mucopolysaccharidosis type 3A
mucopolysaccharidosis type 3A
MIM.252900
Friday 23 October 2009
Synopsis
Autosomal recessive disease Usually normal stature Mild coarse facies Hearing loss Clear corneas Synophrys Asymmetric septal hypertrophy Frequent upper respiratory tract infections Thickened ribs Mild hepatomegaly Mild splenomegaly Diarrhea Mild dysostosis multiplex Dense calvaria Ovoid thoracolumbar vertebrae Mild joint stiffness Hirsutism Synophrys Coarse hair Severe behavioral problems at age 3-4 Mental retardation Hyperactivity Seizures Slowing mental development by 1.5 to 3 years Sleep disturbances common Heparan N-sulfatase deficiency in fibroblasts and amniocytes Heparan sulfate excretion in urine Four clinically indistinguishable biochemically distinct forms Caused by mutations in the heparan sulfate sulfatase gene (SGSH, MIM.605270)
See also
mucopolysaccharidosis type 3 (Sanfillipo syndrome)