A Cerebrospinal Fluid Collection Study in Pediatric and Adult Patients With Hunter Syndrome
Hunter syndrome (mucopolysaccharidosis II [MPS II]) is characterized by lysosomal glycosaminoglycan (GAG) accumulation. Although a majority of patients with MPS II experience neurocognitive involvement, few data are available on cerebrospinal fluid (CSF) GAG levels in these patients. This study meas...
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2015-08-01
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Series: | Journal of Inborn Errors of Metabolism and Screening |
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doaj-44f864c277834cba9dd735f119dfda5b2020-11-25T01:45:01ZengSciELOJournal of Inborn Errors of Metabolism and Screening 2326-45942015-08-01310.1177/232640981559582110.1177_2326409815595821A Cerebrospinal Fluid Collection Study in Pediatric and Adult Patients With Hunter SyndromeChristian J. Hendriksz MD0Joseph Muenzer MD, PhD1Barbara K. Burton MD2Luying Pan PhD3Nan Wang MS4Hicham Naimy PhD5Arian Pano MD, MPH6Ann J. Barbier MD, PhD7 The Mark Holland Metabolic Unit NW2, Salford Royal NHS Foundation Trust, Salford, United Kingdom Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children’s Hospital, Chicago, IL, USA Shire, Lexington, MA, USA Shire, Lexington, MA, USA Shire, Lexington, MA, USA Shire, Lexington, MA, USA Shire, Lexington, MA, USAHunter syndrome (mucopolysaccharidosis II [MPS II]) is characterized by lysosomal glycosaminoglycan (GAG) accumulation. Although a majority of patients with MPS II experience neurocognitive involvement, few data are available on cerebrospinal fluid (CSF) GAG levels in these patients. This study measured GAG levels in CSF collected from 9 patients with MPS II, including 4 adults (aged ≥18 years) with normal cognition, and 5 children, 3 of them with cognitive impairment. The CSF total GAG levels were generally higher in the 3 patients with cognitive impairment (range 842.9-2360.9 ng/mL) versus those with normal cognitive status (range 356.8-1181.1 ng/mL). Heparan sulfate levels, as measured by mass spectrometry, generally followed a similar pattern, with patients with the severe phenotype having the highest values. These data, limited by small sample size, suggest CSF GAG levels and heparan sulfate levels may be higher in patients with cognitive impairment versus patients with cognitively intact MPS II.https://doi.org/10.1177/2326409815595821 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Christian J. Hendriksz MD Joseph Muenzer MD, PhD Barbara K. Burton MD Luying Pan PhD Nan Wang MS Hicham Naimy PhD Arian Pano MD, MPH Ann J. Barbier MD, PhD |
spellingShingle |
Christian J. Hendriksz MD Joseph Muenzer MD, PhD Barbara K. Burton MD Luying Pan PhD Nan Wang MS Hicham Naimy PhD Arian Pano MD, MPH Ann J. Barbier MD, PhD A Cerebrospinal Fluid Collection Study in Pediatric and Adult Patients With Hunter Syndrome Journal of Inborn Errors of Metabolism and Screening |
author_facet |
Christian J. Hendriksz MD Joseph Muenzer MD, PhD Barbara K. Burton MD Luying Pan PhD Nan Wang MS Hicham Naimy PhD Arian Pano MD, MPH Ann J. Barbier MD, PhD |
author_sort |
Christian J. Hendriksz MD |
title |
A Cerebrospinal Fluid Collection Study in Pediatric and Adult Patients With Hunter Syndrome |
title_short |
A Cerebrospinal Fluid Collection Study in Pediatric and Adult Patients With Hunter Syndrome |
title_full |
A Cerebrospinal Fluid Collection Study in Pediatric and Adult Patients With Hunter Syndrome |
title_fullStr |
A Cerebrospinal Fluid Collection Study in Pediatric and Adult Patients With Hunter Syndrome |
title_full_unstemmed |
A Cerebrospinal Fluid Collection Study in Pediatric and Adult Patients With Hunter Syndrome |
title_sort |
cerebrospinal fluid collection study in pediatric and adult patients with hunter syndrome |
publisher |
SciELO |
series |
Journal of Inborn Errors of Metabolism and Screening |
issn |
2326-4594 |
publishDate |
2015-08-01 |
description |
Hunter syndrome (mucopolysaccharidosis II [MPS II]) is characterized by lysosomal glycosaminoglycan (GAG) accumulation. Although a majority of patients with MPS II experience neurocognitive involvement, few data are available on cerebrospinal fluid (CSF) GAG levels in these patients. This study measured GAG levels in CSF collected from 9 patients with MPS II, including 4 adults (aged ≥18 years) with normal cognition, and 5 children, 3 of them with cognitive impairment. The CSF total GAG levels were generally higher in the 3 patients with cognitive impairment (range 842.9-2360.9 ng/mL) versus those with normal cognitive status (range 356.8-1181.1 ng/mL). Heparan sulfate levels, as measured by mass spectrometry, generally followed a similar pattern, with patients with the severe phenotype having the highest values. These data, limited by small sample size, suggest CSF GAG levels and heparan sulfate levels may be higher in patients with cognitive impairment versus patients with cognitively intact MPS II. |
url |
https://doi.org/10.1177/2326409815595821 |
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