Evidence map›Paper›PMID 41379204›Full record

ArticleMolecular biology reports2025

Genetic variability in maple syrup urine disease: novel mutations and their pathogenicity in the Iranian population.

Mansooreh Jafari, Fatemeh Karami, Iman Salahshourifar, Aria Setoodeh, Ali Rahmanifar, Hamideh Bagherian, Mohammad Reza Alaei, Farzaneh Rohani, Sirous Zeinali

Abstract read
PubMed Publisher
In one paragraph

Article in Molecular biology reports, 2025. 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

9 authors.

Mansooreh JafariDepartment of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran.
Fatemeh KaramiApplied Biophotonics Research Center, SR.C., Islamic Azad University, Tehran, Iran. fateme.karami@gmail.com.
Iman SalahshourifarDepartment of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran.
Aria SetoodehDepartment of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.
Ali RahmanifarClinical and Research Unit, Iranian National Society for the Study of Inborn Errors of Metabolism, Tehran, Iran.
Hamideh BagherianKawsar Human Genetics Research Center, Tehran, Iran.
Mohammad Reza AlaeiDepartment of Pediatric Endocrinology and Metabolism, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Farzaneh RohaniPediatric Growth and Development Research Center, Institute of Endocrinology and Metabolism, Iran University of Medical Science, Tehran, Iran.
Sirous ZeinaliDepartment of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Pasteur St, Tehran, Iran. zeinali@gmail.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMaple syrup urine disease (MSUD) is a rare inherited metabolic disorder caused by a deficiency in the branched-chain alpha-keto acid dehydrogenase complex, leading to the accumulation of branched-chain amino acids. This case series describes the clinical and genetic findings of ten Iranian patients with MSUD, focusing on novel mutations in the BCKDHA, BCKDHB, and DBT genes. METHODS AND

resultsTen unrelated patients, all from consanguineous marriages, were diagnosed with MSUD based on clinical presentations and metabolite levels. Whole exome sequencing (WES) and Sanger sequencing identified five novel mutations (c.776 C > T, IVS5-1G > C, c.1070 C > T, c.807-813del7nt, c.772-773insT) and two previously reported mutations in these patients. Pathogenicity was assessed using bioinformatics tools and confirmed by their absence in healthy controls.

conclusionsThis case series highlights the genetic heterogeneity of MSUD in the Iranian population, identifying novel mutations associated with severe clinical presentations. These findings emphasize the value of genetic testing for early diagnosis and genetic counseling in consanguineous populations, with implications for managing MSUD and preventing complications.

Indexed as

Maple Syrup Urine Disease3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)ChildChild, PreschoolConsanguinityExome SequencingFemaleGenetic VariationHumansInfantIranMaleMutation3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)BCKDHABCKDHBDBTGenetic mutationsMaple syrup urine disease

Identifiers

PMID41379204

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.