Evidence map›Paper›PMID 39570792›Full record

ReviewRevista medica del Instituto Mexicano del Seguro Social2024

[Detection of inborn errors of metabolism: guidelines in Mexico and other countries].

Sarahi Guerrero-Barrios, Mariana Chiquillo-Domínguez, Jorge Ayón-Aguilar, Sergio Elihu Rodriguez-Alfaro, Socorro Méndez-Martínez, Máximo Alejandro García-Flores

Abstract readReviewEnglish Abstract
In one paragraph

Review in Revista medica del Instituto Mexicano del Seguro Social, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

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

6 authors.

Sarahi Guerrero-BarriosBenemérita Universidad Autónoma de Puebla, Facultad de Medicina, División de Investigación en Salud. Puebla, Puebla, México.ORCID 0009-0003-9780-6261
Mariana Chiquillo-DomínguezBenemérita Universidad Autónoma de Puebla, Facultad de Medicina, División de Investigación en Salud. Puebla, Puebla, México.ORCID 0000-0002-7107-3704
Jorge Ayón-AguilarInstituto Mexicano del Seguro Social, Órgano de Operación Administrativa Desconcentrada Estatal Puebla, Coordinación Auxiliar Médica de Investigación en Salud. Puebla, Puebla, México.ORCID 0000-0001-9704-8032
Sergio Elihu Rodriguez-AlfaroUniversidad Popular Autónoma del Estado de Puebla, Facultad de Medicina, Departamento del Área de la Salud. Puebla, Puebla, México.ORCID 0000-0002-1815-9082
Socorro Méndez-MartínezInstituto Mexicano del Seguro Social, Órgano de Operación Administrativa Desconcentrada, Coordinación de Planeación y Enlace Institucional. Puebla, Puebla, México.ORCID 0000-0001-7463-0580
Máximo Alejandro García-FloresInstituto Mexicano del Seguro Social, Órgano de Operación Administrativa Desconcentrada Estatal Puebla, Coordinación Auxiliar Médica de Educación en Salud. Puebla, Puebla, México.ORCID 0000-0002-5028-9178

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Inborn errors of metabolism (IEM), also known as inherited metabolic disorders, are rare but associated with significant morbidity and mortality. The incidence is variable in all regions, worldwide it ranges from 1 in 569 to 2500 live births (LBI). The objective of this work was to carry out a narrative review to identify the guidelines that guide the detection of EIMs through official sources from various countries. A total of 13 documents were identified, including protocols, books, manuals, programs and 4 official websites for the detection of EIMs. In general, there is variability in the selection of EIMs that are detected, from 4 to 61 EIMs, primary congenital hypothyroidism and pheniceltonuria are the two EIMs that are included in most screening programs, spinal atrophy and severe combined immunodeficiency are detected less frequently, the incidence of each EIM is variable between countries and even between states of the same country, with congenital hypothyroidism being the most common. The guidelines for the selection of EIMs are determined by the internal policies of each country, the incidence and economic resources. There is no universal standard for the detection of EIMs, but they all pursue the same purpose: detection, diagnosis and timely treatment. In parallel, it allows us to estimate with greater precision the frequency of these disorders.

Indexed as

Metabolism, Inborn ErrorsPractice Guidelines as TopicHumansInfant, NewbornMexicoNeonatal ScreeningIncidenceInfant, NewbornMetabolism, Inborn ErrorsNeonatal Screening

Identifiers

PMID39570792
PMCPMC12539871

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.