Evidence map›Paper›PMID 41383544›Full record

ArticleClinical case reports2025

Mitochondrial HMG-CoA Synthase Deficiency Presenting as Pediatric Metabolic Stroke: A Case Report of a Novel Homozygous HMGCS2 (p.Ile56Asn) Variant.

Yasmeen Alshami, Osama Hroub, Mohammad Hroub, Saja Abouodeh, Zahra Makhamre, Ahmad G Hammouri, Ibrahim Alzatari, Osama Atawneh

Abstract read
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In one paragraph

Article in Clinical case 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

8 authors.

Yasmeen AlshamiFaculty of Medicine Palestine Polytechnic University Bethlehem Palestine.ORCID https://orcid.org/0009-0004-9211-2380
Osama HroubFaculty of Medicine Palestine Polytechnic University Hebron Palestine.ORCID https://orcid.org/0009-0006-6889-2932
Mohammad HroubFaculty of Medicine Palestine Polytechnic University Hebron Palestine.
Saja AbouodehFaculty of Medicine Palestine Polytechnic University Bethlehem Palestine.
Zahra MakhamreFaculty of Medicine Palestine Polytechnic University Hebron Palestine.ORCID https://orcid.org/0009-0006-5172-2734
Ahmad G HammouriRadiology Department Al-Ahli Hospital Hebron Palestine.ORCID https://orcid.org/0000-0003-2919-4980
Ibrahim AlzatariAl-Ahli Hospital Hebron Palestine.
Osama AtawnehPRCS Hospital Hebron Palestine.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mitochondrial HMG-CoA synthase deficiency should be suspected in infants with hypoketotic hypoglycemia, metabolic acidosis, and basal ganglia lesions. A 2-year-old boy with a novel HMGCS2 variant presented with refractory seizures and encephalopathy, highlighting the need for rapid metabolic and genetic evaluation for timely management.

Indexed as

dystoniaHMG‐CoA synthase deficiencymetabolic disordersmitochondrial diseasepediatric neurology

Identifiers

PMID41383544
PMCPMC12689262

What Socratic holds

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Registered trials

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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 Socratic graph.