ArticleMolecular genetics and metabolism2026
Participants with long-chain 3-hydroxy-acylCoA dehydrogenase deficiency (LCHADD)/trifunctional protein deficiency (TFPD) report consistent low-fat diet intake over time.
Article in Molecular genetics and metabolism, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundPatients with LCHADD/TFPD are counseled to follow a diet low in long-chain fats (LCT) and supplement with medium-chain fats (MCT) with adequate micronutrients, but there is limited data on patient implementation of recommendations. We analyzed diet intake of LCHADD/TFPD participants twice, 2 years apart.
methodsParticipants enrolled in the longitudinal Natural History of LCHAD Retinopathy study completed a 3-day food record and supplement logs at baseline and 2 years later. Differences in %LCT and MCT intake over time, and intra-individual and population variation, were analyzed. Percentage of participants meeting estimated average requirements (EAR) for fat-soluble (A, D, E, K) and water-soluble vitamins (B1, B2, B3, C) were calculated.
resultsForty participants were enrolled, 2-36 years (48% female), 25% G1528C homozygous, 68% G1528C heterozygous, and 7% TFPD. Thirty-five baseline and 38 follow-up diet records were included. Fat intake was consistent over time; baseline 13.7% LCT, 18.8% MCT, follow-up 14.7% LCT, 20.6% MCT. Intra-individual variation ranged from 22% to 32% for MCT and LCT, respectively, but both were less than the overall population variation 49% MCT and 36% LCT. An average of 38.8% of participants took a multivitamin; however, only 51% met the EAR for fat-soluble vitamins compared to 81% for water-soluble vitamins.
conclusionsLCHADD/TFPD patients are consistently consuming a low-fat diet with appropriate supplementation of MCT. Day-to-day variation in %LCT was comparable to the general population, but absolute amount of fat was lower. A greater proportion of patients are still not meeting EAR for fat-soluble vitamins compared to water-soluble vitamins.
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