Abstract:The Sanfilippo syndrome is an autosomal recessive mucopolysaccharidosis. Homocysteine and B<sub>12</sub> status have not been described in this syndrome. A 21-year-old bedridden male with the Sanfilippo syndrome was hospitalized. He was in poor nutritional status according to laboratory and somatometric findings, he had an enlarged liver, moderate aortic valve insufficiency and was under antiepileptic, antipsychotic and anti-cholinergic therapy. The patient had moderate hyperhomocysteinemia (16.9 μ… Show more
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