Evidence map›Paper›PMID 29204204›Full record

ArticleJournal of pediatric neurosciences

Thiamine Responsive Pyruvate Dehydrogenase Complex Deficiency: A Potentially Treatable Cause of Leigh's Disease.

Prashant Jauhari, Naveen Sankhyan, Sameer Vyas, Pratibha Singhi

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PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of pediatric neurosciences. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 1 pooled it
0.7field-weighted citation impact, top 30% 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

13 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Review
  5. Therapies for Mitochondrial Disease: Past, Present, and Future.Journal of inherited metabolic disease · 2025
    Review
  6. Article
  7. Dietary supplements for obesity.Journal of preventive medicine and hygiene · 2022
    Review
  8. Review
  9. Review
  10. Article
  11. Article
  12. Article
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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

4 authors at 1 institution in 1 country.

Prashant JauhariDepartment of Pediatrics, Pediatric Neurology and Neurodevelopment Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Naveen SankhyanDepartment of Pediatrics, Pediatric Neurology and Neurodevelopment Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Sameer VyasDepartment of Radiodiagnosis, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Pratibha SinghiDepartment of Pediatrics, Pediatric Neurology and Neurodevelopment Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Post Graduate Institute of Medical Education and Research · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pyruvate dehydrogenase complex (PDHC) deficiency is a rare metabolic disorder that affects tissues with high energy demand such as the central nervous system. The clinico-radiological phenotype of Leigh's disease is one of its common presentations. We present a 9-month-old boy with rapidly progressive infantile Leigh's disease. PDHA1 gene sequencing revealed a pathological homozygous missense mutation c.131A>G or p.H44R in exon 3 consistent with PDHC deficiency. H44R is among the five mutations (H44R, R88S, G89S, R263G, and V389fs) in E1α subunit that is thiamine-responsive. The child was initiated on thiamine, riboflavin, carnitine, coenzyme Q, and sodium benzoate supplementation. Mild recovery was noted at 6 months follow up as no further episodes of encephalopathy occurred. Thereafter, the child was treated with Ketogenic diet which resulted in increased levels of activity and alertness. Despite an improving course, the child had a sudden unexpected death at the age of 21 months.

Indexed as

E1α subunitLeigh's diseasepyruvate dehydrogenase complex deficiencythiamineX-linked

Identifiers

PMID29204204
PMCPMC5696666
OpenAlexW2768832091

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-SA
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.