Do clinical features of Lesch‐Nyhan disease correlate more closely with hypoxanthine or guanine recycling? Article Swipe
David J. Schretlen
,
Wynne Callon
,
Rebecca Ward
,
Rong Fu
,
Tiffany Ho
,
Barry Gordon
,
James C. Harris
,
H. A. Jinnah
·
YOU?
·
· 2015
· Open Access
·
· DOI: https://doi.org/10.1007/s10545-015-9869-x
YOU?
·
· 2015
· Open Access
·
· DOI: https://doi.org/10.1007/s10545-015-9869-x
Lesch‐Nyhan disease (LND) is a rare, X‐linked recessive neurodevelopmental disorder caused by deficiency of hypoxanthine‐guanine phosphoribosyltransferase (HGprt), an enzyme in the purine salvage pathway. HGprt has two functions; it recycles hypoxanthine and guanine. Which of these two functions is more relevant for pathogenesis is unclear because some evidence points to hypoxanthine recycling, but other evidence points to guanine recycling. In this study, we selectively assayed hypoxanthine (Hprt) and guanine (Gprt) recycling in skin fibroblasts from 17 persons with LND, 11 with an attenuated variant of the disease (LNV), and 19 age‐, sex‐, and race‐matched healthy controls (HC). Activity levels of both enzymes differed across groups (p < 0.0001), but only Gprt distinguished patients with LND from those with LNV (p < 0.05). Gprt also showed slightly stronger correlations than Hprt with 13 of 14 measures of the clinical phenotype, including the severity of dystonia, cognitive impairment, and behavioral abnormalities. These findings suggest that loss of guanine recycling might be more closely linked to the LND/LNV phenotype than loss of hypoxanthine recycling.
Related Topics
Concepts
Hypoxanthine-guanine phosphoribosyltransferase
Hypoxanthine
Guanine
Phosphoribosyltransferase
Purine
Hypoxanthine Phosphoribosyltransferase
Reversion
Phenotype
Lesch–Nyhan syndrome
Dystonia
Biology
Medicine
Internal medicine
Enzyme
Endocrinology
Genetics
Biochemistry
Gene
Neuroscience
Nucleotide
Mutant
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1007/s10545-015-9869-x
- OA Status
- green
- Cited By
- 10
- References
- 31
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2170357904
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W2170357904Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1007/s10545-015-9869-xDigital Object Identifier
- Title
-
Do clinical features of Lesch‐Nyhan disease correlate more closely with hypoxanthine or guanine recycling?Work title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2015Year of publication
- Publication date
-
2015-06-11Full publication date if available
- Authors
-
David J. Schretlen, Wynne Callon, Rebecca Ward, Rong Fu, Tiffany Ho, Barry Gordon, James C. Harris, H. A. JinnahList of authors in order
- Landing page
-
https://doi.org/10.1007/s10545-015-9869-xPublisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
greenOpen access status per OpenAlex
- OA URL
-
https://doi.org/10.1007/s10545-015-9869-xDirect OA link when available
- Concepts
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Hypoxanthine-guanine phosphoribosyltransferase, Hypoxanthine, Guanine, Phosphoribosyltransferase, Purine, Hypoxanthine Phosphoribosyltransferase, Reversion, Phenotype, Lesch–Nyhan syndrome, Dystonia, Biology, Medicine, Internal medicine, Enzyme, Endocrinology, Genetics, Biochemistry, Gene, Neuroscience, Nucleotide, MutantTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
10Total citation count in OpenAlex
- Citations by year (recent)
-
2024: 3, 2023: 1, 2022: 2, 2021: 1, 2020: 1Per-year citation counts (last 5 years)
- References (count)
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31Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.with | 78, 81, 114, 118, 131 |
| abstract_inverted_index.(HC). | 97 |
| abstract_inverted_index.(LND) | 3 |
| abstract_inverted_index.HGprt | 25 |
| abstract_inverted_index.These | 150 |
| abstract_inverted_index.Which | 34 |
| abstract_inverted_index.might | 158 |
| abstract_inverted_index.other | 54 |
| abstract_inverted_index.rare, | 6 |
| abstract_inverted_index.these | 36 |
| abstract_inverted_index.those | 117 |
| abstract_inverted_index.(Gprt) | 70 |
| abstract_inverted_index.(Hprt) | 67 |
| abstract_inverted_index.(LNV), | 88 |
| abstract_inverted_index.0.05). | 122 |
| abstract_inverted_index.across | 104 |
| abstract_inverted_index.caused | 11 |
| abstract_inverted_index.enzyme | 19 |
| abstract_inverted_index.groups | 105 |
| abstract_inverted_index.levels | 99 |
| abstract_inverted_index.linked | 162 |
| abstract_inverted_index.points | 49, 56 |
| abstract_inverted_index.purine | 22 |
| abstract_inverted_index.showed | 125 |
| abstract_inverted_index.study, | 62 |
| abstract_inverted_index.LND/LNV | 165 |
| abstract_inverted_index.age‐, | 91 |
| abstract_inverted_index.assayed | 65 |
| abstract_inverted_index.because | 46 |
| abstract_inverted_index.closely | 161 |
| abstract_inverted_index.disease | 2, 87 |
| abstract_inverted_index.enzymes | 102 |
| abstract_inverted_index.guanine | 58, 69, 156 |
| abstract_inverted_index.healthy | 95 |
| abstract_inverted_index.persons | 77 |
| abstract_inverted_index.salvage | 23 |
| abstract_inverted_index.sex‐, | 92 |
| abstract_inverted_index.suggest | 152 |
| abstract_inverted_index.unclear | 45 |
| abstract_inverted_index.variant | 84 |
| abstract_inverted_index.(HGprt), | 17 |
| abstract_inverted_index.0.0001), | 108 |
| abstract_inverted_index.Abstract | 0 |
| abstract_inverted_index.Activity | 98 |
| abstract_inverted_index.clinical | 138 |
| abstract_inverted_index.controls | 96 |
| abstract_inverted_index.differed | 103 |
| abstract_inverted_index.disorder | 10 |
| abstract_inverted_index.evidence | 48, 55 |
| abstract_inverted_index.findings | 151 |
| abstract_inverted_index.guanine. | 33 |
| abstract_inverted_index.measures | 135 |
| abstract_inverted_index.pathway. | 24 |
| abstract_inverted_index.patients | 113 |
| abstract_inverted_index.recycles | 30 |
| abstract_inverted_index.relevant | 41 |
| abstract_inverted_index.severity | 142 |
| abstract_inverted_index.slightly | 126 |
| abstract_inverted_index.stronger | 127 |
| abstract_inverted_index.cognitive | 145 |
| abstract_inverted_index.dystonia, | 144 |
| abstract_inverted_index.functions | 38 |
| abstract_inverted_index.including | 140 |
| abstract_inverted_index.phenotype | 166 |
| abstract_inverted_index.recessive | 8 |
| abstract_inverted_index.recycling | 71, 157 |
| abstract_inverted_index.X‐linked | 7 |
| abstract_inverted_index.attenuated | 83 |
| abstract_inverted_index.behavioral | 148 |
| abstract_inverted_index.deficiency | 13 |
| abstract_inverted_index.functions; | 28 |
| abstract_inverted_index.phenotype, | 139 |
| abstract_inverted_index.recycling, | 52 |
| abstract_inverted_index.recycling. | 59, 171 |
| abstract_inverted_index.fibroblasts | 74 |
| abstract_inverted_index.impairment, | 146 |
| abstract_inverted_index.selectively | 64 |
| abstract_inverted_index.correlations | 128 |
| abstract_inverted_index.hypoxanthine | 31, 51, 66, 170 |
| abstract_inverted_index.pathogenesis | 43 |
| abstract_inverted_index.Lesch‐Nyhan | 1 |
| abstract_inverted_index.distinguished | 112 |
| abstract_inverted_index.abnormalities. | 149 |
| abstract_inverted_index.race‐matched | 94 |
| abstract_inverted_index.neurodevelopmental | 9 |
| abstract_inverted_index.hypoxanthine‐guanine | 15 |
| abstract_inverted_index.phosphoribosyltransferase | 16 |
| cited_by_percentile_year.max | 97 |
| cited_by_percentile_year.min | 89 |
| corresponding_author_ids | https://openalex.org/A5048936648 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 8 |
| corresponding_institution_ids | https://openalex.org/I145311948, https://openalex.org/I2799853436 |
| citation_normalized_percentile.value | 0.63549839 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |