ArticleIrish journal of medical science2007
Long chain fatty acid oxidation defects in children: importance of detection and treatment options.
Article in Irish journal of medical science, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 9 citations in OpenAlex.
- Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year period.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- Charcot-Marie-Tooth Disease With Episodic Rhabdomyolysis Due to Two Novel Mutations in the β Subunit of Mitochondrial Trifunctional Protein and Effective Response to Modified Diet Therapy.Frontiers in neurology · 2021Article
- Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD).Orphanet journal of rare diseases · 2015Article
- Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.Developmental disabilities research reviews · 2013Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
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Abstract
backgroundMitochondrial beta oxidation plays a major role in energy production. Long chain fatty acid oxidation defects include deficiency of the trifunctional protein (rare) or more commonly defects of the long chain 3-hydroxy acyl-CoA dehydrogenase enzyme (LCHAD). These long chain defects have variable presentations, they may present in the neonate or infant with sudden death, hepatopathy (Reyes disease), hypoketotic hypoglycaemia, rhabdomyolysis, myopathy, cardiomyopathy and with late complications such as peripheral neuropathy, pigmentary retinopathy, retinal degeneration and progressive visual loss. The correct diagnosis at presentation is not only life saving but also allows for the appropriate dietary and other intervention, which may have major effects on outcome.
aimThree case reports of patients with long chain fatty acid oxidation defects who have shown significant benefits from treatment are reported.
conclusionsThese paediatric presentations illustrate the clinical heterogeneity of long chain fatty acid oxidation defects and opportunities for effective management if correctly diagnosed.
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