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Case Reports
. 1999 Apr;22(2):123-31.
doi: 10.1023/a:1005437616934.

Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey

M Gillingham  1 , S Van Calcar, D Ney, J Wolff, C Harding
Affiliations
Case Reports

Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey

M Gillingham et al. J Inherit Metab Dis. 1999 Apr.

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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Figures

Figure 1
Figure 1
Dietary intake of LCFA and EFA and plasma triene: tetraene ratio in a child with LCHADD. LCFA, long-chain fatty acids; EFA, essential fatty acids. LCFA and EFA intake is expressed as percentage of total energy. Triene: tetraene ratio normal values = 0.02 ± 0.01. Low LCFA and EFA intake is associated with elevated triene: tetraene ratios, indicative of EFA deficiency
Figure 2
Figure 2
Dietary MCT intake and blood lactate concentrations in a child with LCHADD. MCT, medium-chain fatty acids. MCT intake is expressed as g/kg per day. Normal blood lactate ≤2.0 mmol/L. MCT oil intake less than 1.5 g/kg body weight is associated with elevated blood lactate concentrations
Figure 3
Figure 3
Plasma n – 3 fatty acids in a child with LCHADD. Plasma fatty acids are expressed as μg/ml plasma. Normal levels are LNA = 13.29 ± 6.37; DHA = 38.05 ± 18.06. Levels of LNA vary with LCFA intake. DHA levels remain significantly below normal until oral supplementation of DHA was initiated at 35 months. DHA, docosahexaenoic acid; LNA, α-linolenic acid
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