Participants with long-chain 3-hydroxy-acylCoA dehydrogenase deficiency (LCHADD)/trifunctional protein deficiency...

Patients 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.

Participants 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.

Forty 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.

LCHADD/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.