Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI
Abstract Background Glycogen storage diseases (GSDs) with liver involvement are classified into types 0, I, III, IV, VI, IX and XI, depending on the affected enzyme. Hypoglycemia and hepatomegaly are hallmarks of disease, but muscular and renal tubular involvement, dyslipidemia and osteopenia can de...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-06-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-022-02387-6 |
| _version_ | 1811230785112375296 |
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| author | Miriam Massese Francesco Tagliaferri Carlo Dionisi-Vici Arianna Maiorana |
| author_facet | Miriam Massese Francesco Tagliaferri Carlo Dionisi-Vici Arianna Maiorana |
| author_sort | Miriam Massese |
| collection | DOAJ |
| description | Abstract Background Glycogen storage diseases (GSDs) with liver involvement are classified into types 0, I, III, IV, VI, IX and XI, depending on the affected enzyme. Hypoglycemia and hepatomegaly are hallmarks of disease, but muscular and renal tubular involvement, dyslipidemia and osteopenia can develop. Considering the paucity of literature available, herein we provide a narrative review of these latter forms of GSDs. Main body Diagnosis is based on clinical manifestations and laboratory test results, but molecular analysis is often necessary to distinguish the various forms, whose presentation can be similar. Compared to GSD type I and III, which are characterized by a more severe impact on metabolic and glycemic homeostasis, GSD type 0, VI, IX and XI are usually known to be responsive to the nutritional treatment for achieving a balanced metabolic homeostasis in the pediatric age. However, some patients can exhibit a more severe phenotype and an important progression of the liver and muscular disease. The effects of dietary adjustments in GSD type IV are encouraging, but data are limited. Conclusions Early diagnosis allows a good metabolic control, with improvement of quality of life and prognosis, therefore we underline the importance of building a proper knowledge among physicians about these rare conditions. Regular monitoring is necessary to restrain disease progression and complications. |
| first_indexed | 2024-04-12T10:33:58Z |
| format | Article |
| id | doaj.art-c3f2a265d7ae46c38aba19fbb21ec991 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-12T10:33:58Z |
| publishDate | 2022-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-c3f2a265d7ae46c38aba19fbb21ec9912022-12-22T03:36:46ZengBMCOrphanet Journal of Rare Diseases1750-11722022-06-0117111210.1186/s13023-022-02387-6Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XIMiriam Massese0Francesco Tagliaferri1Carlo Dionisi-Vici2Arianna Maiorana3Division of Metabolism, Department of Pediatric Subspecialties, Ospedale Pediatrico Bambino Gesù, IRCCSDivision of Metabolism, Department of Pediatric Subspecialties, Ospedale Pediatrico Bambino Gesù, IRCCSDivision of Metabolism, Department of Pediatric Subspecialties, Ospedale Pediatrico Bambino Gesù, IRCCSDivision of Metabolism, Department of Pediatric Subspecialties, Ospedale Pediatrico Bambino Gesù, IRCCSAbstract Background Glycogen storage diseases (GSDs) with liver involvement are classified into types 0, I, III, IV, VI, IX and XI, depending on the affected enzyme. Hypoglycemia and hepatomegaly are hallmarks of disease, but muscular and renal tubular involvement, dyslipidemia and osteopenia can develop. Considering the paucity of literature available, herein we provide a narrative review of these latter forms of GSDs. Main body Diagnosis is based on clinical manifestations and laboratory test results, but molecular analysis is often necessary to distinguish the various forms, whose presentation can be similar. Compared to GSD type I and III, which are characterized by a more severe impact on metabolic and glycemic homeostasis, GSD type 0, VI, IX and XI are usually known to be responsive to the nutritional treatment for achieving a balanced metabolic homeostasis in the pediatric age. However, some patients can exhibit a more severe phenotype and an important progression of the liver and muscular disease. The effects of dietary adjustments in GSD type IV are encouraging, but data are limited. Conclusions Early diagnosis allows a good metabolic control, with improvement of quality of life and prognosis, therefore we underline the importance of building a proper knowledge among physicians about these rare conditions. Regular monitoring is necessary to restrain disease progression and complications.https://doi.org/10.1186/s13023-022-02387-6GSDsGlycogen storage diseasesHypoglycemia |
| spellingShingle | Miriam Massese Francesco Tagliaferri Carlo Dionisi-Vici Arianna Maiorana Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI Orphanet Journal of Rare Diseases GSDs Glycogen storage diseases Hypoglycemia |
| title | Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI |
| title_full | Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI |
| title_fullStr | Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI |
| title_full_unstemmed | Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI |
| title_short | Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI |
| title_sort | glycogen storage diseases with liver involvement a literature review of gsd type 0 iv vi ix and xi |
| topic | GSDs Glycogen storage diseases Hypoglycemia |
| url | https://doi.org/10.1186/s13023-022-02387-6 |
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