scholarly journals Potential Role of L-Carnitine in Autism Spectrum Disorder

2021 ◽  
Vol 10 (6) ◽  
pp. 1202
Author(s):  
Alina Kępka ◽  
Agnieszka Ochocińska ◽  
Sylwia Chojnowska ◽  
Małgorzata Borzym-Kluczyk ◽  
Ewa Skorupa ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Fatty Acids ◽  
Fatty Acid ◽  
Fatty Acid Metabolism ◽  
Acid Metabolism ◽  
Autism Spectrum ◽  
Carnitine Deficiency ◽  
Spectrum Disorder ◽  
Respiratory Chain Complexes ◽  
Carnitine Metabolism

L-carnitine plays an important role in the functioning of the central nervous system, and especially in the mitochondrial metabolism of fatty acids. Altered carnitine metabolism, abnormal fatty acid metabolism in patients with autism spectrum disorder (ASD) has been documented. ASD is a complex heterogeneous neurodevelopmental condition that is usually diagnosed in early childhood. Patients with ASD require careful classification as this heterogeneous clinical category may include patients with an intellectual disability or high functioning, epilepsy, language impairments, or associated Mendelian genetic conditions. L-carnitine participates in the long-chain oxidation of fatty acids in the brain, stimulates acetylcholine synthesis (donor of the acyl groups), stimulates expression of growth-associated protein-43, prevents cell apoptosis and neuron damage and stimulates neurotransmission. Determination of L-carnitine in serum/plasma and analysis of acylcarnitines in a dried blood spot may be useful in ASD diagnosis and treatment. Changes in the acylcarnitine profiles may indicate potential mitochondrial dysfunctions and abnormal fatty acid metabolism in ASD children. L-carnitine deficiency or deregulation of L-carnitine metabolism in ASD is accompanied by disturbances of other metabolic pathways, e.g., Krebs cycle, the activity of respiratory chain complexes, indicative of mitochondrial dysfunction. Supplementation of L-carnitine may be beneficial to alleviate behavioral and cognitive symptoms in ASD patients.

Maternal polyunsaturated fatty acids and risk for autism spectrum disorder in the MARBLES high-risk study

Autism ◽  
2020 ◽  
Vol 24 (5) ◽  
pp. 1191-1200 ◽  
Author(s):  
Yunru Huang ◽  
Ana-Maria Iosif ◽  
Robin L Hansen ◽  
Rebecca J Schmidt
Keyword(s):  
Autism Spectrum Disorder ◽  
Fatty Acids ◽  
Fatty Acid ◽  
Polyunsaturated Fatty Acids ◽  
Polyunsaturated Fatty Acid ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Fatty Acid Intake ◽  
Third Trimester ◽  
Acid Intake

Prior research studies suggest that maternal polyunsaturated fatty acids could have protective effects on neurodevelopmental outcomes. The objective of this study was to examine associations between maternal polyunsaturated fatty acid intake during pregnancy and risk for autism spectrum disorder and other non-typical development in a prospective cohort. Eligible women already had a child with autism spectrum disorder and were planning a pregnancy or were pregnant with another child. Children were clinically assessed longitudinally and diagnosed at 36 months. Maternal polyunsaturated fatty acid intake during pregnancy was estimated using food frequency questionnaires. Maternal third-trimester plasma polyunsaturated fatty acid concentration was measured by gas chromatography. In all, 258 mother–child pairs were included. Mothers consuming more total omega-3 in the second half of pregnancy were 40% less likely to have children with autism spectrum disorder (relative risk = 0.6, 95% confidence interval: 0.3–0.98). No significant associations were observed between maternal third-trimester plasma polyunsaturated fatty acid subtype concentrations and risk of autism spectrum disorder. However, higher plasma eicosapentaenoic acid and docosahexaenoic acid concentrations were associated with lower non-typical development risk (relative risk ranging from 0.47 to 0.88). This study provides suggestive evidence of associations between risk of autism spectrum disorder in the children and maternal omega-3 intake in late pregnancy but not with third-trimester plasma polyunsaturated fatty acids. Further research is needed to evaluate these potential relationships. Lay abstract Prior studies suggest that maternal polyunsaturated fatty acids intake during pregnancy may have protective effects on autism spectrum disorder in their children. However, they did not examine detailed timing of maternal polyunsaturated fatty acid intake during pregnancy, nor did they evaluate plasma concentrations. This study investigates whether maternal polyunsaturated fatty acids in defined time windows of pregnancy, assessed by both questionnaires and biomarkers, are associated with risk of autism spectrum disorder and other non-typical development in the children. Food frequency questionnaires were used to estimate maternal polyunsaturated fatty acid intake during the first and second half of pregnancy. Gas chromatography measured maternal plasma polyunsaturated fatty acid concentrations in the third trimester. In all, 258 mother–child pairs from a prospective cohort were included. All mothers already had a child with autism spectrum disorder and were planning a pregnancy or pregnant with another child. Children were clinically assessed longitudinally and diagnosed at 36 months. For polyunsaturated fatty acid intake from questionnaires, we only found mothers consuming more omega-3 in the second half of pregnancy were 40% less likely to have children with autism spectrum disorder. For polyunsaturated fatty acid concentrations in the third-trimester plasma, we did not observe any statistical significance in relation to the risk of autism spectrum disorder. However, our study confirmed associations from previous studies between higher maternal docosahexaenoic acid and eicosapentaenoic acid plasma concentrations in the late pregnancy and reduced risk for non-typical development. This study markedly advanced understandings of whether and when maternal polyunsaturated fatty acid intake influences risk for autism spectrum disorder and sets the stage for prevention at the behavioral and educational level.

Role of the AMP-activated protein kinase in regulating fatty acid metabolism during exerciseThis paper is one of a selection of papers published in this Special Issue, entitled 14th International Biochemistry of Exercise Conference – Muscles as Molecular and Metabolic Machines, and has undergone the Journal’s usual peer review process.

2009 ◽  
Vol 34 (3) ◽  
pp. 315-322 ◽  
Author(s):  
Gregory R. Steinberg
Keyword(s):  
Skeletal Muscle ◽  
Fatty Acids ◽  
Adipose Tissue ◽  
Fatty Acid ◽  
Protein Kinase ◽  
Fatty Acid Metabolism ◽  
Acid Metabolism ◽  
Moderate Intensity ◽  
Amp Activated Protein Kinase

During moderate-intensity exercise, fatty acids are the predominant substrate for working skeletal muscle. The release of fatty acids from adipose tissue stores, combined with the ability of skeletal muscle to actively fine tune the gradient between fatty acid and carbohydrate metabolism, depending on substrate availability and energetic demands, requires a coordinated system of metabolic control. Over the past decade, since the discovery that AMP-activated protein kinase (AMPK) was increased in accordance with exercise intensity, there has been significant interest in the proposed role of this ancient stress-sensing kinase as a critical integrative switch controlling metabolic responses during exercise. In this review, studies examining the role of AMPK as a regulator of fatty acid metabolism in both adipose tissue and skeletal muscle during exercise will be discussed. Exercise induces activation of AMPK in adipocytes and regulates triglyceride hydrolysis and esterfication through phosphorylation of hormone sensitive lipase (HSL) and glycerol-3-phosphate acyl-transferase, respectively. In skeletal muscle, exercise-induced activation of AMPK is associated with increases in fatty acid uptake, phosphorylation of HSL, and increased fatty acid oxidation, which is thought to occur via the acetyl-CoA carboxylase-malony-CoA-CPT-1 signalling axis. Despite the importance of AMPK in regulating fatty acid metabolism under resting conditions, recent evidence from transgenic models of AMPK deficiency suggest that alternative signalling pathways may also be important for the control of fatty acid metabolism during exercise.

scholarly journals Metabolism of fatty acids, secondary complications and effects of physical exercise: integrative review

2020 ◽  
Vol 19 (2) ◽  
pp. 154
Author(s):  
Djeyne Silveira Wagmacker ◽  
Alice Miranda De Oliveira ◽  
Edna Conceição De Oliveira ◽  
Alan Carlos Nery Dos Santos ◽  
Luiz Erlon Araújo Rodrigues ◽  
...  
Keyword(s):  
Fatty Acids ◽  
Fatty Acid ◽  
Physical Exercise ◽  
Fatty Acid Metabolism ◽  
Acid Metabolism ◽  
Spatial Configuration ◽  
Integrative Review ◽  
Metabolic Disturbances ◽  
Secondary Complications ◽  
Positive Effects

Introduction: Diet is a complex set of exposures that frequently interact, and whose cumulative effects influence the results of health. This includes effects on systemic inflammation markers in metabolic disturbances and cardiovascular diseases. Various studies have been presented relating the effect of physical exercise on lipids, however, the results are still controversial. Objective: To describe fatty acid metabolism and the effect of physical exercise on secondary complications. Methods: An integrative review was conducted on topics in the Medline, Pubmed, Web of Science and Scopus databases, published up to the year 2017. Results: Fatty acids, depending on their biochemical characteristics and spatial configuration, have differentiated effect on cardiovascular health, however, studies still present contradictory results about the therapeutic use of certain fatty acids. Physical exercise appears to benefit fatty acid metabolism and attenuate the complications secondary to the intake of certain fatty acids, and potentializes the positive effects of distinct fatty acids. Conclusion: However, variants of physical exercise, such as intensity, duration, time of observation of effects of the results, limit the authors to concluding, with a certain degree of certainty, about the effect of physical exercise on fatty acids and secondary complications, since the studies in the literature continue to be contradictory.Keywords: fatty acids, exercise, inflammation, oxidative stress.

Intramuscular fatty acid metabolism evaluated with stable isotopic tracers

1998 ◽  
Vol 84 (5) ◽  
pp. 1674-1679 ◽  
Author(s):  
Zengkui Guo ◽  
Michael D. Jensen
Keyword(s):  
Fatty Acids ◽  
Fatty Acid ◽  
Fatty Acid Metabolism ◽  
Acid Metabolism ◽  
Isotope Ratio Mass Spectrometry ◽  
Isotopic Tracers ◽  
Nonesterified Fatty Acids ◽  
Stable Isotopic ◽  
Fractional Synthesis ◽  
Intramuscular Triglyceride

We evaluated the applicability of stable isotopic tracers to the study of intramuscular fatty acid metabolism by infusing both [U-13C]palmitate and [1-13C]oleate intravenously for 4 h into fasted conscious rats. Skeletal muscles were sequentially biopsied, and the concentration and13C enrichment of fatty acids were measured by gas chromatography/combustion/isotope ratio mass spectrometry. Throughout the study, the13C enrichment of plasma palmitate and oleate remained substantially greater than intramuscular nonesterified palmitate and oleate enrichment, which in turn was greater than intramuscular triglyceride palmitate and oleate enrichment. Fractional synthesis rates of intramuscular triglycerides in gastrocnemius and soleus were 0.267 ± 0.075 and 0.100 ± 0.030/h ( P = 0.04), respectively, as determined by using [U-13C]palmitate, and were 0.278 ± 0.049 and 0.075 ± 0.013/h ( P = 0.02), respectively, by using [1-13C]oleate. We conclude that plasma free fatty acids are a source for intramuscular triglycerides and nonesterified fatty acids; the latter are likely the synthetic precursors of the former. Uniformly and singly labeled [13C]fatty acid tracers will provide an important tool to study intramuscular fatty acid and triglyceride metabolism.

scholarly journals First Case Report of Primary Carnitine Deficiency Manifested as Intellectual Disability and Autism Spectrum Disorder

2019 ◽  
Vol 9 (6) ◽  
pp. 137 ◽  
Author(s):  
José Guevara-Campos ◽  
Lucía González-Guevara ◽  
José Guevara-González ◽  
Omar Cauli
Keyword(s):  
Autism Spectrum Disorder ◽  
Intellectual Disability ◽  
Genetic Disorder ◽  
Autism Spectrum ◽  
Carnitine Deficiency ◽  
Spectrum Disorder ◽  
Physical Growth ◽  
Metabolic Decompensation ◽  
Reye Syndrome ◽  
Primary Carnitine Deficiency

Systemic primary carnitine deficiency (PCD) is a genetic disorder caused by decreased or absent organic cation transporter type 2 (OCTN2) carnitine transporter activity, resulting in low serum carnitine levels and decreased carnitine accumulation inside cells. In early life, PCD is usually diagnosed as a metabolic decompensation, presenting as hypoketotic hypoglycemia, Reye syndrome, or sudden infant death; in childhood, PCD presents with skeletal or cardiac myopathy. However, the clinical presentation of PCD characterized by autism spectrum disorder (ASD) with intellectual disability (ID) has seldom been reported in the literature. In this report, we describe the clinical features of a seven-year-old girl diagnosed with PCD who presented atypical features of the disease, including a developmental delay involving language skills, concentration, and attention span, as well as autistic features and brain alterations apparent in magnetic resonance imaging. We aim to highlight the difficulties related to the diagnostic and therapeutic approaches used to diagnose such patients. The case reported here presented typical signs of PCD, including frequent episodes of hypoglycemia, generalized muscle weakness, decreased muscle mass, and physical growth deficits. A molecular genetic study confirmed the definitive diagnosis of the disease (c.1345T>G (p.Y449D)) in gene SLC22A5, located in exon 8. PCD can be accompanied by less common clinical signs, which may delay its diagnosis because the resulting global clinical picture can closely resemble other metabolic disorders. In this case, the patient was prescribed a carnitine-enriched diet, as well as oral carnitine at a dose of 100 mg/kg/day. PCD has a better prognosis if it is diagnosed and treated early; however, a high level of clinical suspicion is required for its timely and accurate diagnosis.

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