Inherited glycosylphosphatidylinositol deficiency disorders: a new group of inherited metabolic disorders
Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare congenital disorders of glycosylation with multisystemic involvement. The underlying cause is an abnormal structure of glycosylphosphatidylinositol, which plays a significant role in the attachment of proteins to...
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| Format: | Article |
| Language: | English |
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Termedia Publishing House
2024-12-01
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| Series: | Pediatria Polska |
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| Online Access: | https://www.termedia.pl/Inherited-glycosylphosphatidylinositol-deficiency-disorders-a-new-group-of-inherited-metabolic-disorders,127,55419,1,1.html |
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| author | Michał Patalan Alicja Leśniak Justyna Paprocka Agnieszka Zubkiewicz-Kucharska Kaja Giżewska-Kacprzak Marta Glińska Lidia Babiak-Choroszczak Maria Giżewska Robert Śmigiel |
| author_facet | Michał Patalan Alicja Leśniak Justyna Paprocka Agnieszka Zubkiewicz-Kucharska Kaja Giżewska-Kacprzak Marta Glińska Lidia Babiak-Choroszczak Maria Giżewska Robert Śmigiel |
| author_sort | Michał Patalan |
| collection | DOAJ |
| description | Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare congenital disorders of glycosylation with multisystemic involvement. The underlying cause is an abnormal structure of glycosylphosphatidylinositol, which plays a significant role in the attachment of proteins to the cellular membrane. These glycosylphosphatidylinositol-anchored proteins are an important part of receptors, function as hydrolytic enzymes, and play a crucial role in molecules adhesion, immune response, embryogenesis and neurogenesis. Patients present a variety of symptoms including developmental delay with intellectual disability, abnormalities of the central nervous, skeletal, circulatory, gastrointestinal, and urinary systems, facial dysmorphia as well as hearing and visual impairment. Elevated alkaline phosphatase is a characteristic biochemical feature. The current state of knowledge connects the highly differentiated course of clinical presentation with the heterogenic molecular background evaluated in the next-generation sequencing methods. We present a comprehensive review of the pathogenesis, clinical symptomatology and management options in IGDs. |
| format | Article |
| id | doaj-art-162902fef02641158cdac68fde22a0b2 |
| institution | Kabale University |
| issn | 0031-3939 2300-8660 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Termedia Publishing House |
| record_format | Article |
| series | Pediatria Polska |
| spelling | doaj-art-162902fef02641158cdac68fde22a0b22025-01-27T10:39:50ZengTermedia Publishing HousePediatria Polska0031-39392300-86602024-12-0199432933410.5114/polp.2024.14639455419Inherited glycosylphosphatidylinositol deficiency disorders: a new group of inherited metabolic disordersMichał PatalanAlicja LeśniakJustyna PaprockaAgnieszka Zubkiewicz-KucharskaKaja Giżewska-KacprzakMarta GlińskaLidia Babiak-ChoroszczakMaria GiżewskaRobert ŚmigielInherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare congenital disorders of glycosylation with multisystemic involvement. The underlying cause is an abnormal structure of glycosylphosphatidylinositol, which plays a significant role in the attachment of proteins to the cellular membrane. These glycosylphosphatidylinositol-anchored proteins are an important part of receptors, function as hydrolytic enzymes, and play a crucial role in molecules adhesion, immune response, embryogenesis and neurogenesis. Patients present a variety of symptoms including developmental delay with intellectual disability, abnormalities of the central nervous, skeletal, circulatory, gastrointestinal, and urinary systems, facial dysmorphia as well as hearing and visual impairment. Elevated alkaline phosphatase is a characteristic biochemical feature. The current state of knowledge connects the highly differentiated course of clinical presentation with the heterogenic molecular background evaluated in the next-generation sequencing methods. We present a comprehensive review of the pathogenesis, clinical symptomatology and management options in IGDs.https://www.termedia.pl/Inherited-glycosylphosphatidylinositol-deficiency-disorders-a-new-group-of-inherited-metabolic-disorders,127,55419,1,1.htmlcongenital disorders of glycosylation inherited glycosylphosphatidylinositol deficiency disorders glycosylphosphatidylinositol-anchored proteins next-generation sequencing |
| spellingShingle | Michał Patalan Alicja Leśniak Justyna Paprocka Agnieszka Zubkiewicz-Kucharska Kaja Giżewska-Kacprzak Marta Glińska Lidia Babiak-Choroszczak Maria Giżewska Robert Śmigiel Inherited glycosylphosphatidylinositol deficiency disorders: a new group of inherited metabolic disorders Pediatria Polska congenital disorders of glycosylation inherited glycosylphosphatidylinositol deficiency disorders glycosylphosphatidylinositol-anchored proteins next-generation sequencing |
| title | Inherited glycosylphosphatidylinositol deficiency disorders: a new group of inherited metabolic disorders |
| title_full | Inherited glycosylphosphatidylinositol deficiency disorders: a new group of inherited metabolic disorders |
| title_fullStr | Inherited glycosylphosphatidylinositol deficiency disorders: a new group of inherited metabolic disorders |
| title_full_unstemmed | Inherited glycosylphosphatidylinositol deficiency disorders: a new group of inherited metabolic disorders |
| title_short | Inherited glycosylphosphatidylinositol deficiency disorders: a new group of inherited metabolic disorders |
| title_sort | inherited glycosylphosphatidylinositol deficiency disorders a new group of inherited metabolic disorders |
| topic | congenital disorders of glycosylation inherited glycosylphosphatidylinositol deficiency disorders glycosylphosphatidylinositol-anchored proteins next-generation sequencing |
| url | https://www.termedia.pl/Inherited-glycosylphosphatidylinositol-deficiency-disorders-a-new-group-of-inherited-metabolic-disorders,127,55419,1,1.html |
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