Biochemical Diagnosis

A deficiency of heparan-N-sulfatase (HNS) or alpha-N-acetylglucosaminidase (NAGLU) in Sanfilippo A and B patients, respectively, leads to the accumulation of partially degraded heparan sulfate inside lysosomes. This accumulation is progressive and leads to hypertrophy of the lysosomal system and subsequent urinary excretion of GAGs. Quantitative analysis of urinary GAGs by precipitation with dimethylmethylene blue[4] is the initial step in the biochemical diagnosis, followed by two-dimensional electrophoresis to identify the individual GAGs.[5] Patients with Sanfilippo syndrome show a raised urinary GAG level and abnormal excretion of heparan sulfate and heparin-like component. It is impossible to differentiate between the four Sanfilippo subtypes by the urinary GAG pattern so specific enzyme assays are carried out on leukocytes or fibroblast cells,[5,6] to determine the subtype and make a definitive diagnosis.

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

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