Test Details: Alpha N acetyl galactosaminidase deficiency is an autosomal recessive lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease, is an adult-onset disorder; and type III is an intermediate disorder with mild to moderate neurologic manifestations Enzymatic deficiency leads to inappropriate accumulation of substrates in various organ system. Symptoms may include myoclonus, mental retardation, spasticity, intellectual impairment and other neurologic manifestations etc.