scholarly journals Acylcarnitines’ Level in the Dried Blood Spot Samples of Healthy Newborns in Serbia-The Pilot Study

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Anđelo Beletić ◽  
Aleksandra Tijanić ◽  
Tatjana Nikolić ◽  
Petr Chrastina ◽  
Aleksandar Stefanović ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Dried Blood Spot ◽  
Target Range ◽  
Acid Oxidation ◽  
Worldwide Population ◽  
Chain Acyl ◽  
Transport Defect ◽  
The Individual ◽  
Blood Spot ◽  
Long Chain

Abstract Analysis of the acylcarnitines’ (ACs) is the mainstay for screening for fatty acid oxidation disorders (FAOD). Data about the ACs profile in the dried blood spot samples of healthy newborns in Serbia are not at disposal. Therefore, we determined the ACs levels and established the cut-offs. Between August 2018 and August 2019 a total of 1771 samples had been analysed. Cut-offs, established using a non-parametric approach, were verified in comparison with the worldwide target ranges and the data for several Caucasian populations. The majority of ACs had comparable distribution in Serbian and the worldwide population. In case of discrepancy, the individual alterations had a frequency of less than 10%. Seventeen out of 25 established cut-offs were in the worldwide target range. Reliability of the cut-offs positioning out of the target ranges is not jeopardized, since alterations are negligible or similar findings were reported for other Caucasian populations. The established and verified set of cut-offs can be used in the future screening for carnitine uptake/transport defect, medium- chain acyl-CoA dehydrogenase deficiency, very long-chain acyl-CoA dehydrogenase deficiency, long-chain L-3 hydroxyacyl- CoA dehydrogenase deficiency, trifunctional protein deficiency, carnitine palmitoyltransferase deficiency Ia and II, as well as carnitine: acylcarnitine translocase deficiency.

scholarly journals Medium-Chain Acyl-CoA Dehydrogenase Deficiency in an Infant with Dilated Cardiomyopathy

2009 ◽  
Vol 2009 ◽  
pp. 1-3 ◽  
Author(s):  
Marcello Marcì ◽  
Patrizia Ajovalasit
Keyword(s):  
Fatty Acid ◽  
Dilated Cardiomyopathy ◽  
Dehydrogenase Deficiency ◽  
Acid Oxidation ◽  
Inherited Disorders ◽  
Mitochondrial Fatty Acid Oxidation ◽  
Medium Chain ◽  
Mitochondrial Fatty Acid ◽  
Chain Acyl ◽  
Long Chain

We report about an infant affected by dilated cardiomyopathy (CMP) in whom metabolic investigations evidenced medium-chain-acyl-CoA dehydrogenase deficiency (MCADD), that is one of three types of inherited disorders of mitochondrial fatty-acid -oxidation. Long-chain and very long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficits are recognized as responsible of hypertrophic or, less frequently, dilated cardiomyopathy (CMP) in childhood. Otherwise, to our knowledge, no case of MCADD associated to dilated CMP has been reported in literature.

Hypoglycemia, Hypotonia, and Cardiomyopathy: The Evolving Clinical Picture of Long-Chain Acyl-CoA Dehydrogenase Deficiency

PEDIATRICS ◽  
1991 ◽  
Vol 87 (3) ◽  
pp. 328-333 ◽  
Author(s):  
William R. Treem ◽  
Jeffrey S. Hyams ◽  
Charles A. Stanley ◽  
Daniel E. Hale ◽  
Harris B. Leopold
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Dehydrogenase Deficiency ◽  
Response To Treatment ◽  
Acid Oxidation ◽  
Medium Chain ◽  
Chain Acyl ◽  
History Of ◽  
Related Enzyme ◽  
Long Chain

Inherited defects in fatty acid oxidation, which have been described and diagnosed with increasing frequency in the last decade, are most commonly attributed to a deficiency in the activity of medium-chain acyl-CoA dehydrogenase. Few cases of the related enzyme defect of long-chain acyl-CoA dehydrogenase activity have been reported. An infant with documented long-chain acyl-CoA dehydrogenase deficiency is described with a detailed metabolic profile, long-term clinical follow-up, and response to treatment. This patient is compared with the seven previously published cases of this disorder in order to stress the unique features of the initial presentation, more subtle late manifestations of the disease, and clinical and biochemical differentiation from the more common medium-chain acyl-CoA dehydrogenase deficiency. This report stresses the enlarging spectrum of the clinical presentation and natural history of this defect in fatty acid oxidation.

Round Table Discussion

2016 ◽  
Vol 68 (Suppl. 3) ◽  
pp. 21-23
Author(s):  
Susan Winter ◽  
Neil R.M. Buist ◽  
Nicola Longo ◽  
Saro H. Armenian ◽  
Gary Lopaschuk ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Dehydrogenase Deficiency ◽  
Round Table ◽  
Acid Oxidation ◽  
Round Table Discussion ◽  
Table Discussion ◽  
Chain Acyl ◽  
Acyl Coenzyme A ◽  
Long Chain

The 1st International Carnitine Working Group concluded with a round table discussion addressing several areas of relevance. These included the design of future studies that could increase the amount of evidence-based data about the role of carnitine in the treatment of fatty acid oxidation defects, for which substantial controversy still exists. There was general consensus that future trials on the effect of carnitine in disorders of fatty acid oxidation should be randomized, double-blinded, multicentered and minimally include the following diagnoses: medium-chain acyl coenzyme A (CoA) dehydrogenase deficiency, very long-chain acyl-CoA dehydrogenase deficiency, long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and mitochondrial trifunctional protein deficiency. Another area that generated interest was trials of carnitine in cardiomyopathy and, especially, the use of biomarkers to identify patients at greater risk of cardiotoxicity following treatment with anthracyclines. The possibility that carnitine treatment may lead to improvements in autistic behaviors was also discussed, although the evidence is still not sufficient to make any firm conclusions in this regard. Preliminary data on carnitine levels in children and adolescents with primary hypertension, low birth weight and nephrotic syndrome was also presented. Lastly, the panelists stressed that there remains an objective need to harmonize the terminology used to describe carnitine deficiencies (e.g., primary, secondary and systemic deficiency).

scholarly journals Rhabdomyolysis – Mikor vessük fel metabolikus myopathia lehetőségét? Esetismertetés és diagnosztikus algoritmus

2017 ◽  
Vol 158 (47) ◽  
pp. 1873-1882
Author(s):  
Ágnes Sebők ◽  
Endre Pál ◽  
Gergő Attila Molnár ◽  
István Wittmann ◽  
Judit Berenténé Bene ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Dehydrogenase Deficiency ◽  
Acid Oxidation ◽  
Fatty Acid Oxidation Disorders ◽  
Metabolic Myopathies ◽  
Chain Acyl ◽  
Recurrent Rhabdomyolysis ◽  
Acyl Coenzyme A ◽  
Long Chain

Abstract: We report the case of a 46-year-old female patient with recurrent rhabdomyolysis. In the background of her metabolic myopathy an inherited metabolic disorder of the fatty acid oxidation, very long-chain acyl-coenzyme A-dehydrogenase deficiency was diagnosed. The diagnosis was based on abnormal acyl-carnitine- and urine organic-acid profile in addition to low residual enzyme activity, and was confirmed by genetic testing. After introduction of dietotherapy metabolic crisis necessitating hospital admission has not occurred neither have fixed myopathic changes developed. We present here the differential diagnosis of rhabdomyolysis and exertional muscle complaints, with the metabolic myopathies in focus. The main features of fatty acid oxidation disorders are highlighted, acute and chronic managements of very long-chain acyl-coenzyme A-dehydrogenase deficiency are discussed. Metabolic myopathies respond well to treatment, so good quality of life can be achieved. However, especially in fatty acid oxidation disorders, a metabolic crisis may develop quickly and can be fatal, albeit rarely. Some of these disorders can be identified by newborn screening, but occasionally the symptoms may manifest only in adulthood. With the presentation of this case we would like to point out that in the differential diagnosis of recurrent rhabdomyolysis inherited metabolic disorders should be considered regardless of the patient’s age. Orv Hetil. 2017; 158(46): 1873–1882.

scholarly journals A novel mutation in ACADVL causing very long-chain acyl-coenzyme-A dehydrogenase deficiency in a South Asian pediatric patient: a case report and review of the literature

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Visvalingam Arunath ◽  
Manoj Sanjeewa Liyanarachchi ◽  
Sundararajah Gajealan ◽  
Eresha Jasinge ◽  
Kumudu Weerasekara ◽  
...  
Keyword(s):  
South Asian ◽  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Novel Mutation ◽  
Acid Oxidation ◽  
Baby Girl ◽  
Mitochondrial Fatty Acid ◽  
Chain Acyl ◽  
Acyl Coenzyme A ◽  
Long Chain

Abstract Background Very long-chain acyl-coenzyme-A dehydrogenase deficiency is a rare, severe life-threatening metabolic disorder of mitochondrial fatty acid oxidation, caused by mutations in ACADVL gene. Here we present a genetically confirmed case of a South Asian baby girl with severe, early-onset form of very long-chain acyl-coenzyme-A dehydrogenase deficiency due to a novel mutation in ACADVL gene. Case presentation Index case was the second baby girl of second-degree consanguineous South Asian parents. She had an uncomplicated antenatal period and was born by spontaneous vaginal delivery at term with a birth weight of 2910 g. She had been noted to have fair skin complexion, hypotonia, and 3 cm firm hepatomegaly. Since birth, the baby developed grunting, poor feeding, and recurrent episodes of symptomatic hypoglycemia and convulsions with multiple semiology. Her septic screening and urine ketone bodies were negative. The baby had high anion gap metabolic acidosis and elevated transaminases and serum creatine phosphokinase levels. Echocardiogram at 4 months revealed bilateral ventricular hypertrophy. Acylcarnitine profile revealed elevated concentrations of tetradecanoylcarnitine (C14), tetradecanoylcarnitine C14:1, and C14:1/C16. Unfortunately, the baby died due to intercurrent respiratory illness at 4 months of age. Sequence analysis of ACADVL gene in perimortem blood sample revealed homozygous frame shift novel variant NM_001270447.1, c.711_712del p.(Phe237Leufs*38), which confirmed the diagnosis of very long-chain acyl-coenzyme-A dehydrogenase deficiency. Conclusions This case demonstrates the importance of early diagnosis and management of very long-chain acyl-coenzyme-A dehydrogenase deficiency in improving the outcome of the patients. Implementation of newborn screening using tandem mass spectrometry in Sri Lanka will be beneficial to reduce the morbidity and mortality of treatable disorders of inborn errors.

scholarly journals Mitochondrial very long chain acyl-CoA dehydrogenase deficiency--a new disorder of fatty acid oxidation.

1995 ◽  
Vol 73 (2) ◽  
pp. F103-F105 ◽  
Author(s):  
C. Largilliere ◽  
C. Vianey-Saban ◽  
M. Fontaine ◽  
C. Bertrand ◽  
N. Kacet ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Dehydrogenase Deficiency ◽  
Acid Oxidation ◽  
Chain Acyl ◽  
Long Chain

scholarly journals Very-Long-Chain Acyl-Co-Enzyme A Dehydrogenase Deficiency Presenting as Rhabdomyolysis: First Case Report from Sri Lanka

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Maheshi Wijayabandara ◽  
Champika Gamakaranage ◽  
Dineshani Hettiarachchi
Keyword(s):  
Dehydrogenase Deficiency ◽  
Molecular Genetic ◽  
Kidney Injury ◽  
Acid Oxidation ◽  
Sri Lankan ◽  
First Case ◽  
Successful Recovery ◽  
Creatine Phosphokinase Level ◽  
Chain Acyl ◽  
Long Chain

Background. Rhabdomyolysis can be either inherited or acquired such as in metabolic myopathies. Very-long-chain acyl-CoA dehydrogenase deficiency is a rare fatty acid oxidation disorder which presents with different phenotypes, and the mild adult form can present as intermittent rhabdomyolysis. Here, we present the first adult case of very-long-chain acyl-CoA dehydrogenase deficiency presenting as rhabdomyolysis in a Sri Lankan patient. Case Presentation. A 36-year-old Sri Lankan man who was born to consanguineous parents presented with severe generalized muscle pain, stiffness, and dark-coloured urine for three days following prolonged low-intensity activity. Since fourteen years of age, he has had multiple similar episodes, where one episode was complicated with acute kidney injury. His eldest brother also suffered from the similar episode. Examination revealed only generalized muscle tenderness without any weakness. His creatine phosphokinase level was above 50,000 IU/L, and he had myoglobinuria. Molecular genetic tests confirmed the diagnosis of very-long-chain acyl-CoA dehydrogenase deficiency. Following a successful recovery devoid of complications, he remained asymptomatic with lifestyle adjustments. Conclusion. Very-long-chain acyl-CoA dehydrogenase deficiency is a rare inherited cause of metabolic myopathy that gives rise to intermittent rhabdomyolysis in adults. Prompt diagnosis is essential to prevent complications and prevent its recurrence.

Sign in / Sign up

Export Citation Format

Share Document