Clinical and biochemical findings before and after portacaval shunt in a girl with type Ib glycogen storage disease
A girl presented with an important growth retardation, hepatomegaly, fasting hypoglycemia, lactic acidosis, increased serum cholesterol, triglycerides and uric acid, and increased liver glycogen (7.5%). There was no rise in blood glucose after IV galactose or fructose, but glucagon gave a delayed re...
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| Veröffentlicht in: | Pediatric research 1981-01, Vol.15 (1), p.58-61 |
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| container_title | Pediatric research |
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| creator | Corbeel, L Hue, L Lederer, B De Barsy, T Van den Berghe, G Devlieger, H Jaeken, J Bracke, P Eeckels, R |
| description | A girl presented with an important growth retardation, hepatomegaly, fasting hypoglycemia, lactic acidosis, increased serum cholesterol, triglycerides and uric acid, and increased liver glycogen (7.5%). There was no rise in blood glucose after IV galactose or fructose, but glucagon gave a delayed response. Type Ib glycogen storage disease was suggested by the low normal activity of glucose-6-phosphatase (G-6-Pase) which reached 1.8 units/g (normal, 2 to 10 units/g) and the normal activity of other glycogenolytic enzymes, measured in homogenates prepared in H2O (mean +/- S.E. in control subjects: 59% +/- 7; in type Ia GSD: 92% +/- 3). The activity of G-6-Pase measured as described above increased to 3.8 units/g of liver 1 year after PCS and 7.85 units/g of liver after 3 years. At that time, a simultaneous assay of the enzyme in a fresh, previously not frozen liver biopsy, homogenized in 0.25 M sucrose, revealed only about 29% of the activity of the same sample prepared in H2O (mean +/- S.E. in three controls: 95.8% +/- 8.9. |
| doi_str_mv | 10.1203/00006450-198101000-00014 |
| format | Article |
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There was no rise in blood glucose after IV galactose or fructose, but glucagon gave a delayed response. Type Ib glycogen storage disease was suggested by the low normal activity of glucose-6-phosphatase (G-6-Pase) which reached 1.8 units/g (normal, 2 to 10 units/g) and the normal activity of other glycogenolytic enzymes, measured in homogenates prepared in H2O (mean +/- S.E. in control subjects: 59% +/- 7; in type Ia GSD: 92% +/- 3). The activity of G-6-Pase measured as described above increased to 3.8 units/g of liver 1 year after PCS and 7.85 units/g of liver after 3 years. At that time, a simultaneous assay of the enzyme in a fresh, previously not frozen liver biopsy, homogenized in 0.25 M sucrose, revealed only about 29% of the activity of the same sample prepared in H2O (mean +/- S.E. in three controls: 95.8% +/- 8.9.</description><identifier>ISSN: 0031-3998</identifier><identifier>EISSN: 1530-0447</identifier><identifier>DOI: 10.1203/00006450-198101000-00014</identifier><identifier>PMID: 6259580</identifier><language>eng</language><publisher>United States</publisher><subject>Adolescent ; Female ; Glucose-6-Phosphatase - metabolism ; Glycogen Storage Disease Type I - diagnosis ; Glycogen Storage Disease Type I - enzymology ; Glycogen Storage Disease Type I - surgery ; Humans ; Liver - enzymology ; Portacaval Shunt, Surgical</subject><ispartof>Pediatric research, 1981-01, Vol.15 (1), p.58-61</ispartof><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c360t-b65a510b2c18e1c167d40b4763a83b7791562bf2febb6246d14e1b2959ee0dd43</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/6259580$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Corbeel, L</creatorcontrib><creatorcontrib>Hue, L</creatorcontrib><creatorcontrib>Lederer, B</creatorcontrib><creatorcontrib>De Barsy, T</creatorcontrib><creatorcontrib>Van den Berghe, G</creatorcontrib><creatorcontrib>Devlieger, H</creatorcontrib><creatorcontrib>Jaeken, J</creatorcontrib><creatorcontrib>Bracke, P</creatorcontrib><creatorcontrib>Eeckels, R</creatorcontrib><title>Clinical and biochemical findings before and after portacaval shunt in a girl with type Ib glycogen storage disease</title><title>Pediatric research</title><addtitle>Pediatr Res</addtitle><description>A girl presented with an important growth retardation, hepatomegaly, fasting hypoglycemia, lactic acidosis, increased serum cholesterol, triglycerides and uric acid, and increased liver glycogen (7.5%). There was no rise in blood glucose after IV galactose or fructose, but glucagon gave a delayed response. Type Ib glycogen storage disease was suggested by the low normal activity of glucose-6-phosphatase (G-6-Pase) which reached 1.8 units/g (normal, 2 to 10 units/g) and the normal activity of other glycogenolytic enzymes, measured in homogenates prepared in H2O (mean +/- S.E. in control subjects: 59% +/- 7; in type Ia GSD: 92% +/- 3). The activity of G-6-Pase measured as described above increased to 3.8 units/g of liver 1 year after PCS and 7.85 units/g of liver after 3 years. At that time, a simultaneous assay of the enzyme in a fresh, previously not frozen liver biopsy, homogenized in 0.25 M sucrose, revealed only about 29% of the activity of the same sample prepared in H2O (mean +/- S.E. in three controls: 95.8% +/- 8.9.</description><subject>Adolescent</subject><subject>Female</subject><subject>Glucose-6-Phosphatase - metabolism</subject><subject>Glycogen Storage Disease Type I - diagnosis</subject><subject>Glycogen Storage Disease Type I - enzymology</subject><subject>Glycogen Storage Disease Type I - surgery</subject><subject>Humans</subject><subject>Liver - enzymology</subject><subject>Portacaval Shunt, Surgical</subject><issn>0031-3998</issn><issn>1530-0447</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1981</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo9kF1LwzAUhoMoc05_gpAr76pJ89HmUoYfg4E3eh2S9LSLtOlMWmX_3rrNHTgcXs77ngMPQpiSe5oT9kCmklyQjKqSEjqpbGrKz9CcCjYJzotzNCeE0YwpVV6iq5Q-_xyi5DM0k7lQoiRzlJatD96ZFptQYet7t4Fur2sfKh-ahC3UfYT93tQDRLzt42Cc-Z5MaTOGAfuADW58bPGPHzZ42G0Bryxu2p3rGwg4DX00DeDKJzAJrtFFbdoEN8e5QB_PT-_L12z99rJaPq4zxyQZMiuFEZTY3NESqKOyqDixvJDMlMwWhaJC5rbOa7BW5lxWlAO1uRIKgFQVZwt0d7i7jf3XCGnQnU8O2tYE6MekCyHKXCk1GcuD0cU-pQi13kbfmbjTlOg_3vqftz7x1nveU_T2-GO0HVSn4BEw-wWZtXvW</recordid><startdate>198101</startdate><enddate>198101</enddate><creator>Corbeel, L</creator><creator>Hue, L</creator><creator>Lederer, B</creator><creator>De Barsy, T</creator><creator>Van den Berghe, G</creator><creator>Devlieger, H</creator><creator>Jaeken, J</creator><creator>Bracke, P</creator><creator>Eeckels, R</creator><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>198101</creationdate><title>Clinical and biochemical findings before and after portacaval shunt in a girl with type Ib glycogen storage disease</title><author>Corbeel, L ; Hue, L ; Lederer, B ; De Barsy, T ; Van den Berghe, G ; Devlieger, H ; Jaeken, J ; Bracke, P ; Eeckels, R</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c360t-b65a510b2c18e1c167d40b4763a83b7791562bf2febb6246d14e1b2959ee0dd43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1981</creationdate><topic>Adolescent</topic><topic>Female</topic><topic>Glucose-6-Phosphatase - metabolism</topic><topic>Glycogen Storage Disease Type I - diagnosis</topic><topic>Glycogen Storage Disease Type I - enzymology</topic><topic>Glycogen Storage Disease Type I - surgery</topic><topic>Humans</topic><topic>Liver - enzymology</topic><topic>Portacaval Shunt, Surgical</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Corbeel, L</creatorcontrib><creatorcontrib>Hue, L</creatorcontrib><creatorcontrib>Lederer, B</creatorcontrib><creatorcontrib>De Barsy, T</creatorcontrib><creatorcontrib>Van den Berghe, G</creatorcontrib><creatorcontrib>Devlieger, H</creatorcontrib><creatorcontrib>Jaeken, J</creatorcontrib><creatorcontrib>Bracke, P</creatorcontrib><creatorcontrib>Eeckels, R</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>Pediatric research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Corbeel, L</au><au>Hue, L</au><au>Lederer, B</au><au>De Barsy, T</au><au>Van den Berghe, G</au><au>Devlieger, H</au><au>Jaeken, J</au><au>Bracke, P</au><au>Eeckels, R</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical and biochemical findings before and after portacaval shunt in a girl with type Ib glycogen storage disease</atitle><jtitle>Pediatric research</jtitle><addtitle>Pediatr Res</addtitle><date>1981-01</date><risdate>1981</risdate><volume>15</volume><issue>1</issue><spage>58</spage><epage>61</epage><pages>58-61</pages><issn>0031-3998</issn><eissn>1530-0447</eissn><abstract>A girl presented with an important growth retardation, hepatomegaly, fasting hypoglycemia, lactic acidosis, increased serum cholesterol, triglycerides and uric acid, and increased liver glycogen (7.5%). There was no rise in blood glucose after IV galactose or fructose, but glucagon gave a delayed response. Type Ib glycogen storage disease was suggested by the low normal activity of glucose-6-phosphatase (G-6-Pase) which reached 1.8 units/g (normal, 2 to 10 units/g) and the normal activity of other glycogenolytic enzymes, measured in homogenates prepared in H2O (mean +/- S.E. in control subjects: 59% +/- 7; in type Ia GSD: 92% +/- 3). The activity of G-6-Pase measured as described above increased to 3.8 units/g of liver 1 year after PCS and 7.85 units/g of liver after 3 years. At that time, a simultaneous assay of the enzyme in a fresh, previously not frozen liver biopsy, homogenized in 0.25 M sucrose, revealed only about 29% of the activity of the same sample prepared in H2O (mean +/- S.E. in three controls: 95.8% +/- 8.9.</abstract><cop>United States</cop><pmid>6259580</pmid><doi>10.1203/00006450-198101000-00014</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| identifier | ISSN: 0031-3998 |
| ispartof | Pediatric research, 1981-01, Vol.15 (1), p.58-61 |
| issn | 0031-3998 1530-0447 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_75582999 |
| source | MEDLINE; SpringerLink Journals; EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection; Journals@Ovid Complete |
| subjects | Adolescent Female Glucose-6-Phosphatase - metabolism Glycogen Storage Disease Type I - diagnosis Glycogen Storage Disease Type I - enzymology Glycogen Storage Disease Type I - surgery Humans Liver - enzymology Portacaval Shunt, Surgical |
| title | Clinical and biochemical findings before and after portacaval shunt in a girl with type Ib glycogen storage disease |
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