Effect of docosahexaenoic acid administration on plasma lipid profile and metabolic parameters of children with methylmalonic acidaemia

Aldámiz‐Echevarría, Luis; Sanjurjo, Pablo; Elorz, Javier; Prieto, José Manuel Compaña; Pérez, Cynthia; Andrade, Fernando; Rodríguez‐Soriano, Juan

doi:10.1007/s10545-006-0182-6

Cited by 6 publications

(4 citation statements)

References 45 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…() found a significantly higher level of plasma TG and lower TCh in patients compared to controls, whereas Ald′amiz‐Echevarr′ıa et al . () found no difference in plasma TCh between four patients with MMA and controls. In this pilot study, six patients with branched chain organic acidaemias, nine with a urea cycle defect and two with TYR‐ I had a normal lipid profile comparable to that of controls.…”

Section: Discussionmentioning

confidence: 81%

“…In PKU patients, variable CVD risk factors have been studied, including dyslipidaemia (Agostoni et al ., , ; Colome et al ., ; Moseley et al ., ) and plasma homocysteine levels (Schulpis et al ., ; Hvas et al ., ) with contradictory results. However, there are only few reports on plasma lipid levels (Colome et al ., ; Ald′amiz‐Echevarr′ıa et al ., ) in patients affected with other categories of IEPM, such as urea cycle defects and branched chain organic acidaemias.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Cardiovascular disease biomarkers in patients with inborn errors of protein metabolism: a pilot study

Karam

Majdalani

Daher

et al. 2014

J Human Nutrition Diet

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 81%

Section: Introductionmentioning

confidence: 99%

Cardiovascular disease biomarkers in patients with inborn errors of protein metabolism: a pilot study

Karam

Majdalani

Daher

et al. 2014

J Human Nutrition Diet

View full text Add to dashboard Cite

show abstract

“…Docosahexaenoic acid (DHA) concentrations in plasma of patients with MSUD or MMA may be low and require supplementation (Aldámiz-Echevarría et al 2006, Mazer et al 2010). Since myelin abnormalities may be associated with DHA deficiency, nutritional intake of essential fatty acids (EFA) should be monitored (Strauss et al 2010).…”

Section: Therapeutic Strategiesmentioning

confidence: 99%

Advances and challenges in the treatment of branched‐chain amino/keto acid metabolic defects

Knerr

Weinhold

Vockley

et al. 2011

J of Inher Metab Disea

View full text Add to dashboard Cite

Summary Disorders of branched-chain amino/keto acid metabolism encompass diverse entities, including maple syrup urine disease (MSUD), the ‘classical’ organic acidurias isovaleric acidemia (IVA), propionic acidemia (PA), methylmalonic acidemia (MMA) and, among others, rarely described disorders such as 2-methylbutyryl-CoA dehydrogenase deficiency (MBDD) or isobutyryl-CoA dehydrogenase deficiency (IBDD). Our focus in this review is to highlight the biochemical basis underlying recent advances and ongoing challenges of long-term conservative therapy including precursor/protein restriction, replenishment of deficient substrates, and the use of antioxidants and anaplerotic agents which refill the Krebs cycle. Ongoing clinical assessments of affected individuals in conjunction with monitoring of disease-specific biochemical parameters remain essential. It is likely that mass spectrometry-based ‘metabolomics’ may be a helpful tool in the future for studying complete biochemical profiles and diverse metabolic phenotypes. Prospective studies are needed to test the effectiveness of adjunct therapies such as antioxidants, ornithine-alpha-ketoglutarate (OKG) or creatine in addition to specialized diets and to optimize current therapeutic strategies in affected individuals. With the individual lifetime risk and degree of severity being unknown in asymptomatic individuals with MBDD or IBDD, instructions regarding risks for metabolic stress and fasting avoidance along with clinical monitoring are reasonable interventions at the current time. Overall, it is apparent that carefully designed prospective clinical investigations and multicenter cohort-controlled trials are needed in order to leverage that knowledge into significant breakthroughs in treatment strategies and appropriate approaches.

show abstract

“…DHA level increased significantly; however AA levels did not increase over the study period. In an open-labeled, randomized study of crossover design, children with MMA received DHA treatment or placebo [35]. Plasma DHA level increased and triacylglycerol levels decreased significantly with DHA therapy.…”

Section: Long-chain Polyunsaturated Fatty Acids In Inborn Errors Omentioning

confidence: 99%

Long-Chain Polyunsaturated Fatty Acids in Inborn Errors of Metabolism

Fekete

Décsi

2010

Nutrients

View full text Add to dashboard Cite

The treatment of children with inborn errors of metabolism (IEM) is mainly based on restricted dietary intake of protein-containing foods. However, dietary protein restriction may not only reduce amino acid intake, but may be associated with low intake of polyunsaturated fatty acids as well. This review focuses on the consequences of dietary restriction in IEM on the bioavailability of long-chain polyunsaturated fatty acids (LCPUFAs) and on the attempts to ameliorate these consequences. We were able to identify during a literature search 10 observational studies investigating LCPUFA status in patients with IEM and six randomized controlled trials (RCTs) reporting effect of LCPUFA supplementation to the diet of children with IEM. Decreased LCPUFA status, in particular decreased docosahexaenoic acid (DHA) status, has been found in patients suffering from IEM based on the evidence of observational studies. LCPUFA supplementation effectively improves DHA status without detectable adverse reactions. Further research should focus on functional outcomes of LCPUFA supplementation in children with IEM.

show abstract

Effect of docosahexaenoic acid administration on plasma lipid profile and metabolic parameters of children with methylmalonic acidaemia

Abstract: As previously found in normal children, dietary supplementation with DHA decreases the triglyceride levels, normalizing the hypertriglyceridaemia of these children without any evidence of short-term adverse effects.

Cited by 6 publications

References 45 publications

Cardiovascular disease biomarkers in patients with inborn errors of protein metabolism: a pilot study

Cardiovascular disease biomarkers in patients with inborn errors of protein metabolism: a pilot study

Advances and challenges in the treatment of branched‐chain amino/keto acid metabolic defects

Long-Chain Polyunsaturated Fatty Acids in Inborn Errors of Metabolism

Contact Info

Product

Resources

About