Evidence map›Paper›PMID 39391064›Full record

ArticleFrontiers in genetics2024

Case report: Two siblings with very late onset of holocarboxylase synthase deficiency and a mini-review.

Margaux Gaschignard, Louis Domenach, Delphine Lamireau, Claire Guibet, Sandrine Roche, Emmanuel Richard, Isabelle Redonnet-Vernhet, Samir Mesli, Louis Lebreton

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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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

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

9 authors.

Margaux GaschignardHôpital Pédiatrique, Pôle Pédiatrique, CHU de Bordeaux, Bordeaux, France.
Louis DomenachLaboratoire de Biochimie, Pôle de Biologie et Pathologie, CHU de Bordeaux, Bordeaux, France.
Delphine LamireauHôpital Pédiatrique, Pôle Pédiatrique, CHU de Bordeaux, Bordeaux, France.
Claire GuibetLaboratoire de Biochimie, Pôle de Biologie et Pathologie, CHU de Bordeaux, Bordeaux, France.
Sandrine RocheHôpital Pédiatrique, Pôle Pédiatrique, CHU de Bordeaux, Bordeaux, France.
Emmanuel RichardLaboratoire de Biochimie, Pôle de Biologie et Pathologie, CHU de Bordeaux, Bordeaux, France.
Isabelle Redonnet-VernhetHôpital Pédiatrique, Pôle Pédiatrique, CHU de Bordeaux, Bordeaux, France.
Samir MesliLaboratoire de Biochimie, Pôle de Biologie et Pathologie, CHU de Bordeaux, Bordeaux, France.
Louis LebretonLaboratoire de Biochimie, Pôle de Biologie et Pathologie, CHU de Bordeaux, Bordeaux, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Holocarboxylase synthase (HCS) deficiency is an extremely rare metabolic disorder typically presenting as severe neonatal metabolic acidosis, lethargy, hypotonia, vomiting, and seizures. This report describes two siblings in a family with late-onset forms of HCS deficiency. The younger sister presented at the age of 11 years and manifested as acute metabolic acidosis, which promptly resolved following rehydration and biotin administration. The results of the organic urine profile confirmed multiple carboxylase deficiency, and genetic testing revealed a novel pathogenic variant in the

Indexed as

acidose métaboliquebiotinholocarboxylase synthase deficiencyinherited metabolic diseaselate onset

Identifiers

PMID39391064
PMCPMC11464450

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