ArticleJournal of inherited metabolic disease1999
Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey.
Article in Journal of inherited metabolic disease, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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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.
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.
Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 85 citations in OpenAlex.
- International Guideline on the Diagnosis, Treatment, and Monitoring of Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD).Journal of inherited metabolic disease · 2026Guideline
- Higher dietary protein intake preserves lean body mass, lowers liver lipid deposition, and maintains metabolic control in participants with long-chain fatty acid oxidation disorders.Journal of inherited metabolic disease · 2019Trial
- Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency.Molecular genetics and metabolism · 2007Trial
- Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.Molecular genetics and metabolism · 2003Trial
- Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.Journal of inherited metabolic disease · 1999Trial
- Participants with long-chain 3-hydroxy-acylCoA dehydrogenase deficiency (LCHADD)/trifunctional protein deficiency (TFPD) report consistent low-fat diet intake over time.Molecular genetics and metabolism · 2026Article
- Metabolic Myopathies and HyperCKemia in Adulthood: A Clinical Approach to Diagnosis and Management.Journal of clinical medicine · 2026Review
- A Focus on the Role of Dietary Treatment in the Prevention of Retinal Dysfunction in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: A Systematic Review.Children (Basel, Switzerland) · 2025Review
- A proposal for an updated staging system for LCHADD retinopathy.Ophthalmic genetics · 2024Article
- Resting and total energy expenditure of patients with long-chain fatty acid oxidation disorders (LC-FAODs).Molecular genetics and metabolism · 2023Article
- Management of pregnancy in a patient with long-chain 3-hydroxyacyl CoA dehydrogenase deficiency.JIMD reports · 2022Article
- 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
- Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.Orphanet journal of rare diseases · 2018Article
- Role of 3-Hydroxy Fatty Acid-Induced Hepatic Lipotoxicity in Acute Fatty Liver of Pregnancy.International journal of molecular sciences · 2018Review
- Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast.Journal of inherited metabolic disease · 2015Article
- 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
- A role for peroxisome proliferator-activated receptor γ coactivator 1 (PGC-1) in the regulation of cardiac mitochondrial phospholipid biosynthesis.The Journal of biological chemistry · 2014Article
- Altered body composition and energy expenditure but normal glucose tolerance among humans with a long-chain fatty acid oxidation disorder.American journal of physiology. Endocrinology and metabolism · 2013Article
- Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.JIMD reports · 2013Article
- Prolonged QT interval and lipid alterations beyond β-oxidation in very long-chain acyl-CoA dehydrogenase null mouse hearts.American journal of physiology. Heart and circulatory physiology · 2011Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Current dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD; long-chain-(S)-3-hydroxyacyl-CoA:NAD+ oxido-reductase, EC 1.1.1.211) deficiency (LCHADD) is based on avoiding fasting, and minimizing energy production from long-chain fatty acids. We report the effects of various dietary manipulations on plasma and urinary laboratory values in a child with LCHADD. In our patient, a diet restricted to 9% of total energy from long-chain fatty acids and administration of 1.5 g medium-chain triglyceride oil per kg body weight normalized plasma acylcarnitine and lactate levels, but dicarboxylic acid excretion remained approximately ten times normal. Plasma docosahexaenoic acid (DHA, 22:6n-3) was consistently low over a 2-year period; DHA deficiency may be related to the development of pigmentary retinopathy seen in this patient population. We also conducted a survey of metabolic physicians who treat children with LCHADD to determine current dietary interventions employed and the effects of these interventions on symptoms of this disease. Survey results indicate that a diet low in long-chain fatty acids, supplemented with medium-chain triclyceride oil, decreased the incidence of hypoketotic hypoglycaemia, and improved hypotonia, hepatomegaly, cardiomyopathy, and lactic acidosis. However, dietary treatment did not appear to effect peripheral neuropathy, pigmentary retinopathy or myoglobinuria.
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Registered trials
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.