People with one working copy are genetic carriers of Sanfilippo syndrome. They have no symptoms but may pass down the defective gene to their children. People with two defective copies will suffer from Sanfilippo syndrome. Mechanism
Glycosaminoglycans (GAGs) are chains of sugar molecules. They are found in the extracellular matrix and the cell membrane, or stored in the secretory granules. GAGs are stored in the cell lysosome, and are degraded by enzymes such as glycosidases, sulfatases, and acetyltransferases. Deficiency in these enzymes lead to the four subtypes of MPS III. Diagnosis
Sanfilippo syndrome types A, B, C, and D are considered to be clinically indistinguishable, although mutations in different genes are responsible for each disease. The following discussion is therefore applicable to all four conditions.A urinalysis can show elevated levels of heparan sulfate in the urine. All four types of Sanfilippo syndrome show increased levels of GAGs in the urine; however, this is less true of Sanfilippo syndrome than other MPS disorders. Additionally, urinary GAG levels are higher in infants and toddlers than in older children. In order to avoid a false negative urine test due to dilution, it is important that a urine sample be taken first thing in the morning.The diagnosis may be confirmed by enzyme assay of skin fibroblasts and white blood cells.
Leena is a feminine given name. It is a variant spelling of Lina and Lena. It is a direct Quranic Arabic name, meaning "young palm tree", or figuratively "tender, young, delicate". In Persian, it means "light", "a ray of sunlight" or "beautiful girl". In Kurdish, it means cascade falls (تئاڤگەی بچوک).