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Clinical Trial
. 2003 Jun;79(2):114-23.
doi: 10.1016/s1096-7192(03)00073-8.

Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Melanie B Gillingham  1 , William E Connor, Dietrich Matern, Piero Rinaldo, Terry Burlingame, Kaatje Meeuws, Cary O Harding
Affiliations
Clinical Trial

Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Melanie B Gillingham et al. Mol Genet Metab. 2003 Jun.

Abstract

Current dietary therapy for long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency consists of fasting avoidance, and limiting long-chain fatty acid (LCFA) intake. This study reports the relationship of dietary intake and metabolic control as measured by plasma acylcarnitine and organic acid profiles in 10 children with LCHAD or TFP deficiency followed for 1 year. Subjects consumed an average of 11% of caloric intake as dietary LCFA, 11% as MCT, 12% as protein, and 66% as carbohydrate. Plasma levels of hydroxypalmitoleic acid, hydroxyoleic, and hydroxylinoleic carnitine esters positively correlated with total LCFA intake and negatively correlated with MCT intake suggesting that as dietary intake of LCFA decreases and MCT intake increases, there is a corresponding decrease in plasma hydroxyacylcarnitines. There was no correlation between plasma acylcarnitines and level of carnitine supplementation. Dietary intake of fat-soluble vitamins E and K was deficient. Dietary intake and plasma levels of essential fatty acids, linoleic and linolenic acid, were deficient. On this dietary regimen, the majority of subjects were healthy with no episodes of metabolic decompensation. Our data suggest that an LCHAD or TFP-deficient patient should adhere to a diet providing age-appropriate protein and limited LCFA intake (10% of total energy) while providing 10-20% of energy as MCT and a daily multi-vitamin and mineral (MVM) supplement that includes all of the fat-soluble vitamins. The diet should be supplemented with vegetable oils as part of the 10% total LCFA intake to provide essential fatty acids.

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Figures

Fig. 1
Fig. 1
Dietary intake of carbohydrate (CHO), protein, medium-chain triglyceride (MCT), and long-chain fatty acids (LCFA) in 10 children with LCHAD deficiency (black bars) compared to the published estimated intake of the US pediatric population (hatched bars) [12]. Data are presented as mean intake ± standard deviation (SD).
Fig. 2
Fig. 2
Percent of caloric intake as LCFA (x-axis) correlated with plasma levels of 3-hydroxypalmitoleic (C16:1-OH) and 3-hydroxyoleic (C18:1-OH) acylcarnitines (y-axis) in 10 children with LCHAD deficiency. The normal range is indicated by the gray shaded area. R2, correlation coefficient; p, significance (p value).
Fig. 3
Fig. 3
Percent of caloric intake as MCT (x-axis) negatively correlated with plasma levels of 3-hydroxypalmitoleic (C16:1-OH) and 3-hyroxyoleic (C18:1-OH) acylcarnitines (y-axis) in 10 children with LCHAD or TFP deficiency. The normal range is indicated by the gray shaded area. R2, correlation coefficient; p, significance (p value).
Fig. 4
Fig. 4
Supplemental carnitine intake (mg/kg body weight) (x-axis) correlated with plasma levels of 3-hydroxypalmitoleic (C16:1-OH) and 3-hyroxyoleic (C18:1-OH) acylcarnitines (y-axis) in 10 children with LCHAD deficiency. The normal range is indicated by the gray shaded area. R2, correlation coefficient; p, significance (p value).
Fig. 5
Fig. 5
Percent of caloric intake as LCFA (x-axis), percent of caloric intake as MCT, and supplemental carnitine (mg/kg body weight) correlated with plasma levels of 3-hydroxystearate (C18:0-OH) (y-axis) in 10 children with LCHAD deficiency (n = 16 timepoints). R2, correlation coefficient; p, significance (p value).
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