Evidence map›Paper›PMID 26067813›Full record

ArticleJournal of inherited metabolic disease2016

Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?

David J Schretlen, Wynne Callon, Rebecca E Ward, Rong Fu, Tiffany Ho, Barry Gordon, James C Harris, H A Jinnah

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of inherited metabolic disease, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.3field-weighted citation impact, top 38% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 10 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 3 institutions in 1 country.

David J SchretlenDepartment of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Meyer 218, Baltimore, MD, 21287-7218, USA. dschret@jhmi.edu.
Wynne CallonDepartment of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Meyer 218, Baltimore, MD, 21287-7218, USA.
Rebecca E WardDepartment of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Meyer 218, Baltimore, MD, 21287-7218, USA.
Rong FuDepartment of Neurology, Emory University School of Medicine, Atlanta, GA, USA.
Tiffany HoDepartment of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Meyer 218, Baltimore, MD, 21287-7218, USA.
Barry GordonDepartment of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
James C HarrisDepartment of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Meyer 218, Baltimore, MD, 21287-7218, USA.
H A JinnahDepartment of Neurology, Emory University School of Medicine, Atlanta, GA, USA.
Johns Hopkins Medicine · USEmory University · USJohns Hopkins University · US

Funding

Institute for Clinical and Translational ResearchUL1TR001079 · NCATS · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2013 to 2017
$60.1M
Lesch-Nyhan Disease: Neuroanatomic and Biochemical Bases of the PhenotypeR01HD053312 · NICHD · JOHNS HOPKINS UNIVERSITY · PI SCHRETLEN, DAVID J · 2008 to 2011
$2.0M
NCATS NIH HHS UL1 TR001079NICHD NIH HHS R01 HD053312
6 · The paper itself

Abstract

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.

Indexed as

AdolescentAdultCase-Control StudiesFibroblastsGuanineHumansHypoxanthineHypoxanthine PhosphoribosyltransferaseLesch-Nyhan SyndromeMalePhenotypePurinesSkinYoung AdultGuanineHypoxanthineHypoxanthine PhosphoribosyltransferasePurines

Identifiers

PMID26067813
PMCPMC5903427
OpenAlexW2170357904

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.