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• W2127691826 abstract "<h3>Background</h3> Mucopolysaccharidosis type IIID (MPS-IIID), or Sanfilippo syndrome type D, is a rare autosomal recessive lysosomal storage disorder caused by mutations in the<i>N</i>-acetylglucosamine-6-sulfatase (<i>GNS</i>) gene, leading to impaired degradation of heparan sulfate. <h3>Objectives</h3> To report the natural history of MPS-IIID in 2 siblings described by Kaplan and Wolfe in 1987 and to study the phenotype in 2 other unrelated families with MPS-IIID. <h3>Design, Setting, and Patients</h3> Case series of 4 patients with MPS-IIID: 2 siblings followed up at the Montreal Neurological Hospital and Institute, 1 patient followed up at the UZ Brussel, and 1 patient recruited through the prenatal counseling program at the UZ Brussel. <h3>Main Outcome Measures</h3> Clinical and molecular data collected from 3 families with enzyme-based diagnosis of MPS-IIID. <h3>Results</h3> The course of the disease was characteristic of MPS-IIID in all patients, although survival may be longer than was previously reported. In family 1, both siblings were homozygous for a novel nonsense mutation in the<i>GNS</i>gene (c.1168C>T). In family 2, the proband carried a heterozygous mutation occurring in a splice recognition site in the intron 7 boundary (c.876-2A>G). The second mutation in this patient remains to be identified. In family 3, the proband was homozygous for a novel frameshift mutation in<i>GNS</i>due to the insertion of 5 nucleotides (c.1138_1139insGTCCT). <h3>Conclusions</h3> Major issues in the care of patients with MPS-IIID include behavioral problems, sleep problems, recurrent infections, dysphagia, and pain from orthopedic complications. To date, all mutations in<i>GNS</i>predict protein truncation, and there is no obvious genotype-phenotype correlation." @default.
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• W2127691826 date "2007-11-01" @default.
• W2127691826 modified "2023-10-17" @default.
• W2127691826 title "Sanfilippo Syndrome Type D" @default.
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• W2127691826 doi "https://doi.org/10.1001/archneur.64.11.1629" @default.
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