Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity?
Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. Human chitotriosidase is a recently described fully active chitinase expressed by activated macrophages. Marked elevation of chitotriosidase...
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| Veröffentlicht in: | Journal of Pediatric Endocrinology and Metabolism 2013-11, Vol.26 (11), p.1149-1152 |
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| container_title | Journal of Pediatric Endocrinology and Metabolism |
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| creator | Tümer, Leyla Kasapkara, Çiğdem Seher Biberoğlu, Gürsel Ezgü, Fatih Hasanoğlu, Alev |
| description | Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. Human chitotriosidase is a recently described fully active chitinase expressed by activated macrophages. Marked elevation of chitotriosidase activity was initially observed in plasma of patients with Gaucher disease. Subsequently, elevation was also observed in various lysosomal storage disorders such as fucosidosis, galactosialidosis and glycogen storage disease type IV. The aim of the present study was to evaluate plasma chitotriosidase activity in 19 children with glycogen storage disease type I. Plasma chitotriosidase levels were found to be significantly higher in children with GSD type I than healthy age-matched controls (21.3±16.4 vs. 12.3±8.9 nmol/h/mL, p=0.04). All the patients reported here presented with hepatomegaly. Our report expands the spectrum of disorders that should be included in the differential diagnosis of patients with increased plasma chitotriosidase activity, irrespective of the mechanisms involved. |
| doi_str_mv | 10.1515/jpem-2013-0066 |
| format | Article |
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Human chitotriosidase is a recently described fully active chitinase expressed by activated macrophages. Marked elevation of chitotriosidase activity was initially observed in plasma of patients with Gaucher disease. Subsequently, elevation was also observed in various lysosomal storage disorders such as fucosidosis, galactosialidosis and glycogen storage disease type IV. The aim of the present study was to evaluate plasma chitotriosidase activity in 19 children with glycogen storage disease type I. Plasma chitotriosidase levels were found to be significantly higher in children with GSD type I than healthy age-matched controls (21.3±16.4 vs. 12.3±8.9 nmol/h/mL, p=0.04). All the patients reported here presented with hepatomegaly. Our report expands the spectrum of disorders that should be included in the differential diagnosis of patients with increased plasma chitotriosidase activity, irrespective of the mechanisms involved.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>chitotriosidase activity</subject><subject>Female</subject><subject>glycogen storage disease type I</subject><subject>Glycogen Storage Disease Type I - blood</subject><subject>Glycogen Storage Disease Type I - physiopathology</subject><subject>Hexosaminidases - blood</subject><subject>Humans</subject><subject>Infant</subject><subject>Male</subject><subject>Young Adult</subject><issn>0334-018X</issn><issn>2191-0251</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kE1v3CAURVHVKhml2WYZsezGCQ-MY6-q0eRTGqmLtlJ3FONHh5E9OIAn8b8Po0m764onOO-Kewi5AHYFEuT1dsSh4AxEwVhVfSALDg0UjEv4SBZMiLJgUP86JecxbhljkEmQ4oScclGDEFIsyO-Vn_qOPny_pWkekT5RfB31rqNpgzSOaFKYBuot7Vz0ocMQ6YtLG4o97nXCjo69joOmZuOST8H56DodkWqT3N6l-etn8snqPuL5-3lGft7f_Vg9FutvD0-r5bow-R-psKK11siStxaRcZsL6eZGVsaKWlsDtYCmamWl83tGeZdvqxKxsdC0rNbijHw55o7BP08YkxpcNNj3eod-igrKsua5fSkzenVETfAxBrRqDG7QYVbA1EGsOohVB7HqIDYvXL5nT-2A3T_8r8YMLI_Ai-4TZk1_wjTnQW39FHa59n-SeQWggAOUjXgDJEOKxg</recordid><startdate>20131101</startdate><enddate>20131101</enddate><creator>Tümer, Leyla</creator><creator>Kasapkara, Çiğdem Seher</creator><creator>Biberoğlu, Gürsel</creator><creator>Ezgü, Fatih</creator><creator>Hasanoğlu, Alev</creator><general>De Gruyter</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20131101</creationdate><title>Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity?</title><author>Tümer, Leyla ; Kasapkara, Çiğdem Seher ; Biberoğlu, Gürsel ; Ezgü, Fatih ; Hasanoğlu, Alev</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c353t-f3bffc542bfee02f006a9756cf38afc183196b56abfe3bf2d8af64ee9f19b08a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>chitotriosidase activity</topic><topic>Female</topic><topic>glycogen storage disease type I</topic><topic>Glycogen Storage Disease Type I - blood</topic><topic>Glycogen Storage Disease Type I - physiopathology</topic><topic>Hexosaminidases - blood</topic><topic>Humans</topic><topic>Infant</topic><topic>Male</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tümer, Leyla</creatorcontrib><creatorcontrib>Kasapkara, Çiğdem Seher</creatorcontrib><creatorcontrib>Biberoğlu, Gürsel</creatorcontrib><creatorcontrib>Ezgü, Fatih</creatorcontrib><creatorcontrib>Hasanoğlu, Alev</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of Pediatric Endocrinology and Metabolism</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tümer, Leyla</au><au>Kasapkara, Çiğdem Seher</au><au>Biberoğlu, Gürsel</au><au>Ezgü, Fatih</au><au>Hasanoğlu, Alev</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity?</atitle><jtitle>Journal of Pediatric Endocrinology and Metabolism</jtitle><addtitle>J Pediatr Endocrinol Metab</addtitle><date>2013-11-01</date><risdate>2013</risdate><volume>26</volume><issue>11</issue><spage>1149</spage><epage>1152</epage><pages>1149-1152</pages><issn>0334-018X</issn><eissn>2191-0251</eissn><abstract>Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. Human chitotriosidase is a recently described fully active chitinase expressed by activated macrophages. Marked elevation of chitotriosidase activity was initially observed in plasma of patients with Gaucher disease. Subsequently, elevation was also observed in various lysosomal storage disorders such as fucosidosis, galactosialidosis and glycogen storage disease type IV. The aim of the present study was to evaluate plasma chitotriosidase activity in 19 children with glycogen storage disease type I. Plasma chitotriosidase levels were found to be significantly higher in children with GSD type I than healthy age-matched controls (21.3±16.4 vs. 12.3±8.9 nmol/h/mL, p=0.04). All the patients reported here presented with hepatomegaly. Our report expands the spectrum of disorders that should be included in the differential diagnosis of patients with increased plasma chitotriosidase activity, irrespective of the mechanisms involved.</abstract><cop>Germany</cop><pub>De Gruyter</pub><pmid>23813353</pmid><doi>10.1515/jpem-2013-0066</doi><tpages>4</tpages></addata></record> |
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| ispartof | Journal of Pediatric Endocrinology and Metabolism, 2013-11, Vol.26 (11), p.1149-1152 |
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| language | eng |
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| source | MEDLINE; De Gruyter journals |
| subjects | Adolescent Adult Child Child, Preschool chitotriosidase activity Female glycogen storage disease type I Glycogen Storage Disease Type I - blood Glycogen Storage Disease Type I - physiopathology Hexosaminidases - blood Humans Infant Male Young Adult |
| title | Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity? |
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