Evidence map›Paper›PMID 38591937›Full record

ArticleGenetics and molecular biology2024

Homocysteine and methylmalonic acid in Phenylketonuria patients.

Giovana Regina Weber Hoss, Fernanda Sperb-Ludwig, Tássia Tonon, Soraia Poloni, Sidney Behringer, Henk J Blom, François Maillot, Ida Vanessa Doederlein Schwartz

Abstract read
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Article in Genetics and molecular biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

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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

1 citing paper in PubMed.

  1. 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.

Giovana Regina Weber HossHospital de Clínicas de Porto Alegre, Laboratório BRAIN, Porto Alegre, RS, Brazil.ORCID http://orcid.org/0000-0003-0580-879X
Fernanda Sperb-LudwigHospital de Clínicas de Porto Alegre, Laboratório BRAIN, Porto Alegre, RS, Brazil.ORCID http://orcid.org/0000-0002-2460-7064
Tássia TononHospital de Clínicas de Porto Alegre, Laboratório BRAIN, Porto Alegre, RS, Brazil.ORCID http://orcid.org/0000-0001-8504-7526
Soraia PoloniHospital de Clínicas de Porto Alegre, Laboratório BRAIN, Porto Alegre, RS, Brazil.ORCID http://orcid.org/0000-0003-4506-6487
Sidney BehringerUniversity Medical Centre, Laboratory of Clinical Biochemistry and Metabolism, Freiburg, Germany.
Henk J BlomErasmus Universiteit Rotterdam, Laboratory of Clinical Genetics, The Netherlands.ORCID http://orcid.org/0000-0001-5202-9241
François MaillotUniversity Hospital of Tours, Department of Internal Medicine, Tours, France.ORCID http://orcid.org/0000-0002-1979-5769
Ida Vanessa Doederlein SchwartzHospital de Clínicas de Porto Alegre, Laboratório BRAIN, Porto Alegre, RS, Brazil.ORCID http://orcid.org/0000-0002-7933-6687

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hyperhomocysteinemia and vitamin B12 deficiency have been reported in patients with phenylketonuria. In this study, total homocysteine (tHcy) and methylmalonic acid (MMA) levels were analyzed in samples from 25 phenylketonuria (PKU) patients. Comparisons were made between pre- and post-treatment values (n= 3); on treatment values, between periods with high and normal/low phenylalanine (Phe) levels (n= 20); and in women before, during and after pregnancy (n= 3). THcy levels decreased after treating PKU with metabolic formula (p=0.014). Except for a pregnant woman before pregnancy, none of the patients had tHcy values above the normal range. In fact, tHcy was < 5 μmol/L in 34% of the samples. We observed a decrease in Phe, tHcy, and tyrosine levels during pregnancy. MMA levels did not differ significantly, with values remaining in the normal range. These data indicate that there was no B12 deficiency in patients who adhere to the diet. In conclusion, in PKU patients treated with metabolic formula, tHcy is frequently not elevated, remaining even in the lower normal range in some patients. Thus, clinical follow-up and adherence to dietary treatment are crucial to prevent B12 deficiency.

Identifiers

PMID38591937
PMCPMC11000623

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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.