Evidence map›Paper›PMID 10399091›Full record

ArticleJournal of inherited metabolic disease1999

3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease.

M Di Rocco, U Caruso, I Moroni, S Lupino, E Lamantea, A R Fantasia, C Borrone, K M Gibson

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In one paragraph

Article in Journal of inherited metabolic disease, 1999. 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
0.2field-weighted citation impact, top 52% 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, 13 citations in OpenAlex.

  1. Review
  2. Inherited disorders in the conversion of methionine to homocysteine.Journal of inherited metabolic disease · 2009
    Review
  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 2 countries.

M Di RoccoII Division of Pediatrics, G. Gaslini Institute, Genoa, Italy.
U Caruso
I Moroni
S Lupino
E Lamantea
A R Fantasia
C Borrone
K M Gibson
Istituto Giannina Gaslini · ITFondazione IRCCS Istituto Neurologico Carlo Besta · ITOregon Health & Science University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report on a child with a clinical and neuroradiological picture consistent with Leigh disease and an unusual association of isolated hypermethioninaemia and 3-methylglutaconic aciduria. A low-methionine diet normalized both plasma methionine and urine 3-methylglutaconic acid; a methionine-loading test led to significant increase of both metabolites. In the skin fibroblasts the activity of 3-methylglutaconyl-CoA hydratase was essentially normal. No explanation of this uncommon association of hypermethioninaemia and glutaconic aciduria is available. The possibility of a common transporter for 3-methylglutaconic acid and methionine is an attractive hypothesis.

Indexed as

Amino Acid Metabolism, Inborn ErrorsChild, PreschoolGlutaratesHumansLeigh DiseaseMaleMethionineSkullTomography, X-Ray Computed3-methylglutaconic acidGlutaratesMethionine

Identifiers

PMID10399091
OpenAlexW247812154

What OpenQuestion holds

Textmetadata
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.