Evidence map›Paper›PMID 37420116›Full record

ArticleIndian journal of pediatrics2024

Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia.

Neerja Gupta, Mounika Endrakanti, Meenakshi Bhat, Nivedita Rao, Ravneet Kaur, Madhulika Kabra

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Article in Indian journal of pediatrics, 2024. 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
0.6field-weighted citation impact, top 34% 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, 3 citations in OpenAlex.

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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 at 2 institutions in 1 country.

Neerja GuptaDivision of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, Room 840, 8th floor, Mother and Child Block, Ansari Nagar, New Delhi, 110029, India. neerja17@gmail.com.ORCID 0000-0002-7108-1974
Mounika EndrakantiDivision of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, Room 840, 8th floor, Mother and Child Block, Ansari Nagar, New Delhi, 110029, India.
Meenakshi BhatCentre for Human Genetics, Bangalore, Karnataka, 560100, India.
Nivedita RaoCentre for Human Genetics, Bangalore, Karnataka, 560100, India.
Ravneet KaurDivision of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, Room 840, 8th floor, Mother and Child Block, Ansari Nagar, New Delhi, 110029, India.
Madhulika KabraDivision of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, Room 840, 8th floor, Mother and Child Block, Ansari Nagar, New Delhi, 110029, India.
All India Institute of Medical Sciences · INCentre For Human Genetics · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesTo study the clinical and molecular spectrum of Methylmalonic acidemia (MMA).

methodsIn this retrospective study, the records of 30 MMA patients were evaluated for their phenotype, biochemical abnormalities, genotype, and outcomes.

resultsThirty patients with MMA (age range 0-21 y) from 27 unrelated families were enrolled. Family history and consanguinity were noted in 10/27 (37%) and 11/27 (41%) families respectively. Acute metabolic decompensation was more common (57%) than chronic presentation. Biochemical work-up was suggestive of isolated MMA (n = 18) and MMA with homocystinuria (n = 9) respectively. Molecular testing in 24 families showed 21 pathogenic or likely pathogenic variants with MMA cblC as the commonest molecular subtype (n = 8). B12 responsiveness, an important determinant of long-term outcome, was observed in eight patients [MMAA (n = 3) and MMACHC (n = 5)]. Mortality was 30% (n = 9/30) with a high proportion of early-onset severe disease and fatal outcome in isolated MMA mut

conclusionsThis study cohort had MMA cblC subtype as the most common type of MMA followed by the MMA mutase defect. Outcomes in MMA are influenced by the type of molecular defect, age, and severity of presentation. Early detection and management is likely to result in better outcomes.

Indexed as

Amino Acid Metabolism, Inborn ErrorsAdolescentChildChild, PreschoolFemaleGenotypeHomocystinuriaHumansInfantInfant, NewbornMaleMutationOxidoreductasesPhenotypeRetrospective StudiesYoung AdultMMACHC protein, humanOxidoreductasesHomocystinuriaMethylmalonic acidemiaMethylmalonyl-CoA mutase enzymeMMACHCNewborn screeningNext generation sequencing

Identifiers

PMID37420116
OpenAlexW4383615354

What OpenQuestion holds

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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.