COMPLEX GLYCEROL KINASE DEFICIENCY: A CONTIGUOUS GENE SYNDROME INVOLVING THE DUCHENNE MUSCULAR DYSTROPHY, GLYCEROL KINASE, AND ADRENAL HYPOPLASIA CONGENITA LOCI.
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| Title: | COMPLEX GLYCEROL KINASE DEFICIENCY: A CONTIGUOUS GENE SYNDROME INVOLVING THE DUCHENNE MUSCULAR DYSTROPHY, GLYCEROL KINASE, AND ADRENAL HYPOPLASIA CONGENITA LOCI. |
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| Authors: | McCabe, Edward R. B., Guo, Weiwen, Burris, Thomas P. |
| Source: | Mental Retardation & Developmental Disabilities Research Reviews. 1996, Vol. 2 Issue 3, p160-166. 7p. |
| Subjects: | Genetic disorders, Duchenne muscular dystrophy, Glyceryl ethers, Molecular cloning, Genes, Adrenaline |
| Abstract: | Complex glycerol kinase deficiency is a contiguous gene syndrome that involves deletion of the glycerol kinase (GK) gene along with the loci for Duchenne muscular dystrophy (DMD) and/or adrenal hypoplasia congenita (AHC). The deletion breakpoints in these patients allowed identification of the critical regions for the GK and AHC genes, and both were identified using a positional cloning strategy. In addition to complex glycerol kinase deficiency, there are also two distinct phenotypes characterizing isolated glycerol kinase deficiency, the juvenile and benign forms. The juvenile form has onset in the first weeks to years of life with episodic decompensation. These episodes can be prevented or at least reduced in number by the use of a reduced-fat and therefore reduced-glycerol diet. Other families exhibit the benign form of isolated glycerol kinase deficiency. The affected individuals within these families have the biochemical features of this disorder but are asymptomatic. [ABSTRACT FROM AUTHOR] |
| Copyright of Mental Retardation & Developmental Disabilities Research Reviews is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | Psychology and Behavioral Sciences Collection |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: pbh DbLabel: Psychology and Behavioral Sciences Collection An: 12390179 AccessLevel: 6 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: COMPLEX GLYCEROL KINASE DEFICIENCY: A CONTIGUOUS GENE SYNDROME INVOLVING THE DUCHENNE MUSCULAR DYSTROPHY, GLYCEROL KINASE, AND ADRENAL HYPOPLASIA CONGENITA LOCI. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22McCabe%2C+Edward+R%2E+B%2E%22">McCabe, Edward R. B.</searchLink><br /><searchLink fieldCode="AR" term="%22Guo%2C+Weiwen%22">Guo, Weiwen</searchLink><br /><searchLink fieldCode="AR" term="%22Burris%2C+Thomas+P%2E%22">Burris, Thomas P.</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Mental+Retardation+%26+Developmental+Disabilities+Research+Reviews%22">Mental Retardation & Developmental Disabilities Research Reviews</searchLink>. 1996, Vol. 2 Issue 3, p160-166. 7p. – Name: Subject Label: Subjects Group: Su Data: <searchLink fieldCode="DE" term="%22Genetic+disorders%22">Genetic disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Duchenne+muscular+dystrophy%22">Duchenne muscular dystrophy</searchLink><br /><searchLink fieldCode="DE" term="%22Glyceryl+ethers%22">Glyceryl ethers</searchLink><br /><searchLink fieldCode="DE" term="%22Molecular+cloning%22">Molecular cloning</searchLink><br /><searchLink fieldCode="DE" term="%22Genes%22">Genes</searchLink><br /><searchLink fieldCode="DE" term="%22Adrenaline%22">Adrenaline</searchLink> – Name: Abstract Label: Abstract Group: Ab Data: Complex glycerol kinase deficiency is a contiguous gene syndrome that involves deletion of the glycerol kinase (GK) gene along with the loci for Duchenne muscular dystrophy (DMD) and/or adrenal hypoplasia congenita (AHC). The deletion breakpoints in these patients allowed identification of the critical regions for the GK and AHC genes, and both were identified using a positional cloning strategy. In addition to complex glycerol kinase deficiency, there are also two distinct phenotypes characterizing isolated glycerol kinase deficiency, the juvenile and benign forms. The juvenile form has onset in the first weeks to years of life with episodic decompensation. These episodes can be prevented or at least reduced in number by the use of a reduced-fat and therefore reduced-glycerol diet. Other families exhibit the benign form of isolated glycerol kinase deficiency. The affected individuals within these families have the biochemical features of this disorder but are asymptomatic. [ABSTRACT FROM AUTHOR] – Name: AbstractSuppliedCopyright Label: Group: Ab Data: <i>Copyright of Mental Retardation & Developmental Disabilities Research Reviews is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.) |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/(SICI)1098-2779(1996)2:3<160::AID-MRDD7>3.0.CO;2-W Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 7 StartPage: 160 Subjects: – SubjectFull: Genetic disorders Type: general – SubjectFull: Duchenne muscular dystrophy Type: general – SubjectFull: Glyceryl ethers Type: general – SubjectFull: Molecular cloning Type: general – SubjectFull: Genes Type: general – SubjectFull: Adrenaline Type: general Titles: – TitleFull: COMPLEX GLYCEROL KINASE DEFICIENCY: A CONTIGUOUS GENE SYNDROME INVOLVING THE DUCHENNE MUSCULAR DYSTROPHY, GLYCEROL KINASE, AND ADRENAL HYPOPLASIA CONGENITA LOCI. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: McCabe, Edward R. B. – PersonEntity: Name: NameFull: Guo, Weiwen – PersonEntity: Name: NameFull: Burris, Thomas P. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 08 Text: 1996 Type: published Y: 1996 Identifiers: – Type: issn-print Value: 10804013 Numbering: – Type: volume Value: 2 – Type: issue Value: 3 Titles: – TitleFull: Mental Retardation & Developmental Disabilities Research Reviews Type: main |
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