Abstract:Multiple Sulfatase Deficiency (MSD) is a rare autosomal recessive disease with specific clinical findings such as psychomotor retardation and neurological deterioration. No therapy is available for this genetic disorder. Previous studies have shown that N-acetyl-L-leucine (NALL) can improve the neurological inflammation in the cerebellum.
In the current study, the effects of NALL on ataxia symptoms and quality of life were explored in a patient with MSD.
This study was a crossover case st… Show more
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