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Proposal for an individualized dietary strategy in patients with very long‐chain acyl‐CoA dehydrogenase deficiency
Author(s) -
Bleeker Jeannette C.,
Kok Irene L.,
Ferdinandusse Sacha,
de Vries Maaike,
Derks Terry G.J.,
Mulder Margot F.,
Williams Monique,
Gozalbo Estela Rubio,
Bosch Annet M.,
van den Hurk Dorine T.,
de Sainvan der Velden Monique G.M.,
Waterham Hans R.,
Wijburg Frits A.,
Visser Gepke
Publication year - 2019
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1002/jimd.12037
Subject(s) - asymptomatic , cohort , medicine , gastroenterology , endocrinology , pediatrics , biology
Background Patients with very long chain acyl‐CoA dehydrogenase deficiency (VLCADD), a long chain fatty acid oxidation disorder, are traditionally treated with a long chain triglyceride (LCT) restricted and medium chain triglyceride (MCT) supplemented diet. Introduction of VLCADD in newborn screening (NBS) programs has led to the identification of asymptomatic newborns with VLCADD, who may have a more attenuated phenotype and may not need dietary adjustments. Objective To define dietary strategies for individuals with VLCADD based on the predicted phenotype. Method We evaluated long‐term dietary histories of a cohort of individuals diagnosed with VLCADD identified before the introduction of VLCADD in NBS and their beta‐oxidation (LC‐FAO) flux score (rate of oleate oxidation) in cultured skin fibroblasts in relation to the clinical outcome. Based on these results a dietary strategy is proposed. Results Sixteen individuals with VLCADD were included. One had an LC‐FAO flux score >90%, was not on a restricted diet and is asymptomatic to date. Four patients had an LC‐FAO flux score <10%, and significant VLCADD related symptoms despite the use of strict diets including LCT restriction, MCT supplementation and nocturnal gastric drip feeding. Patients with an LC‐FAO flux score between 10 and 90% ( n = 11) showed a more heterogeneous phenotype. Conclusions This study shows that a strict diet cannot prevent poor clinical outcome in severely affected patients and that the LC‐FAO flux is a good predictor of clinical outcome in individuals with VLCADD identified before its introduction in NBS. Hereby, we propose an individualized dietary strategy based on the LC‐FAO flux score.