Dataset Information

Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.

ABSTRACT: UNLABELLED:Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is an inborn error of fatty acid metabolism that affects the degradation of long chain fatty acids and causes insufficient energy production and accumulation of toxic intermediates. The treatment consists of a diet low in fat, with supplementation of medium-chain triglycerides that bypass the metabolic block. In addition, frequent feeds and extra carbohydrates are given during febrile illnesses to reduce lipolysis. Hence, this diet differs from the general dietary recommendations for growing children. Furthermore, the Swedish dietary instructions for fat intake in LCHAD deficiency are given in grams, which differ from most guidelines that recommend fat intake as percentage shares of total caloric intake. AIMS:To assess growth in patients with LCHAD deficiency, in relation to dietary treatment and to evaluate if overweight/obesity is more common than in the normal population. RESULTS:The growth velocity showed acceleration after diagnosis and the start of treatment, followed by a period of stable or decelerated growth. The majority of the patients developed overweight to a greater extent than children without LCHAD deficiency. Several patients also went through a phase of obesity. Data on final height (FH) showed that three out of five patients had grown according to their genetic potential. CONCLUSIONS:Regular and frequent follow-up and careful monitoring of weight are essential to avoid the development of overweight and obesity. The Swedish dietary instructions defining fat intake in total grams per day may be an alternative approach to achieve a moderate total caloric intake.

SUBMITTER: Haglind CB

PROVIDER: S-EPMC3565647 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.

Haglind C Bieneck CB Stenlid M Halldin MH Ask S S Alm J J Nemeth A A Döbeln Uv U Nordenström A A

JIMD reports 20120706

<h4>Unlabelled</h4>Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is an inborn error of fatty acid metabolism that affects the degradation of long chain fatty acids and causes insufficient energy production and accumulation of toxic intermediates. The treatment consists of a diet low in fat, with supplementation of medium-chain triglycerides that bypass the metabolic block. In addition, frequent feeds and extra carbohydrates are given during febrile illnesses to reduce lipolysis. ...[more]

PMID: 23430524

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Project description:The objective of this prospective cohort study was to determine if dietary therapy including docosahexaenoic acid (DHA; C22:6omega-3) supplementation prevents the progression of the severe chorioretinopathy that develops in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency. Physical, biochemical, and ophthalmological evaluations, including electroretinogram (ERG) and visual acuity by evoked potential (VEP), were performed at baseline and annually following the initiation of 65-130 mg/day DHA supplementation and continued treatment with a low-fat diet. Fourteen children with LCHAD or TFP deficiency, 1-12 years of age at enrollment, were followed for 2-5 years. Three subjects with TFP beta-subunit mutations had normal appearance of the posterior pole of the ocular fundi at enrollment and no changes over the course of the study. Eleven subjects who were homozygote and heterozygote for the common mutation, c.1528G>C, had no change to severe progression of atrophy of the choroid and retina with time. Of these, four subjects had marked to severe chorioretinopathy associated with high levels of plasma hydroxyacylcarnitines and decreased color, night and/or central vision during the study. The plasma level of long-chain 3-hydroxyacylcarnitines, metabolites that accumulate as a result of LCHAD and TFP deficiency, was found to be negatively correlated with maximum ERG amplitude (Rmax) (p=0.0038, R2=0.62). In addition, subjects with sustained low plasma long-chain 3-hydroxyacylcarnitines maintained higher ERG amplitudes with time compared to subjects with chronically high 3-hydroxyacylcarnitines. Visual acuity, as determined with the VEP, appeared to increase with time on DHA supplementation (p=0.051) and there was a trend for a positive correlation with plasma DHA concentrations (p=0.075, R2=0.31). Thus, optimal dietary therapy as indicated by low plasma 3-hydroxyacylcarnitine and high plasma DHA concentrations was associated with retention of retinal function and visual acuity in children with LCHAD or TFP deficiency.

Project description:BackgroundMitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencies are rare fatty acid ?-oxidation disorders. Without dietary management the conditions are life-threatening. We conducted a systematic review to investigate whether pre-symptomatic dietary management following newborn screening provides better outcomes than treatment following symptomatic detection.MethodsWe searched Web of Science, Medline, Pre-Medline, Embase and the Cochrane Library up to 23rd April 2018. Two reviewers independently screened titles, abstracts and full texts for eligibility and quality appraised the studies. Data extraction was performed by one reviewer and checked by another.ResultsWe included 13 articles out of 7483 unique records. The 13 articles reported on 11 patient groups, including 174 people with LCHAD deficiency, 18 people with MTP deficiency and 12 people with undifferentiated LCHAD/MTP deficiency. Study quality was moderate to weak in all studies. Included studies suggested fewer heart and liver problems in screen-detected patients, but inconsistent results for mortality. Follow up analyses compared long-term outcomes of (1) pre-symptomatically versus symptomatically treated patients, (2) screened versus unscreened patients, and (3) asymptomatic screen-detected, symptomatic screen-detected, and clinically diagnosed patients in each study. For follow up analyses 1 and 2, we found few statistically significant differences in the long-term outcomes. For follow up analysis 3 we found a significant difference for only one comparison, in the incidence of cardiomyopathy between the three groups.ConclusionsThere is some evidence that dietary management following screen-detection might be associated with a lower incidence of some LCHAD and MTP deficiency-related complications. However, the evidence base is limited by small study sizes, quality issues and risk of confounding. An internationally collaborative research effort is needed to fully examine the risks and the benefits to pre-emptive dietary management with particular attention paid to disease severity and treatment group.

Dataset Information

Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.

Publications

Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.

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