A0171
Alpha N Acetyl Galactosaminidase
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.
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Category
Advanced Routine Diagnostics
Pre-test Information
No special preparation.
Report Delivery
11 working days
Gender
All
Organ
Multi-Organ
Alpha N Acetyl Galactosaminidase
4200
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