ArticleMolecular genetics and metabolism reports2020
Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report.
Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.
- Short-chain enoyl-CoA hydratase deficiency: a systematic review of clinical spectrum, genotype-phenotype correlations and survival predictors.Neurogenetics · 2026Pooled it
- Neurological, metabolic and inflammatory phenotypes in a mouse model of ECHS1 deficiency.Brain communications · 2025Article
- Increased ketone levels as a key magnetic resonance spectroscopic findings during acute exacerbation inRadiology case reports · 2024Article
- Valine and Inflammation Drive Epilepsy in a Mouse Model of ECHS1 Deficiency.bioRxiv : the preprint server for biology · 2024Article
- The Physiological and Pathological Role of Acyl-CoA Oxidation.International journal of molecular sciences · 2023Review
- Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency.Orphanet journal of rare diseases · 2022Article
- Pathogenic Biallelic Mutations in ECHS1 in a Case with Short-Chain Enoyl-CoA Hydratase (SCEH) Deficiency-Case Report and Literature Review.International journal of environmental research and public health · 2022Review
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report a case of a 7-month-old boy with Short-chain enoyl-CoA hydratase (ECHS1) deficiency concomitant with prominent ketoacidosis, and no elevation in plasma lactate levels. He suddenly became unconscious, after he had a lot of defecation. He was referred to our hospital by a local doctor because of a right conjugate deviation and hypotonia. Initial investigations revealed severe anion gap metabolic acidosis, hyperuricemia, hyperketonemia, and normal lactate levels in the blood and cerebrospinal fluid. Magnetic resonance imaging of the brain showed abnormal signals in the bilateral caudate nucleus and globus pallidus, suggesting the possibility of inborn errors of metabolism. Thus, analysis of acylcarnitine analysis and urine organic acid was performed but could not help diagnose his condition. We then performed mutation analysis using a DNA panel. We found the following heterozygous mutations in
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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.