scholarly journals Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency—A Retrospective Nationwide Study

Nutrients ◽  
2021 ◽  
Vol 13 (9) ◽  
pp. 2925
Author(s):  
Kristina Rücklová ◽  
Eva Hrubá ◽  
Markéta Pavlíková ◽  
Petr Hanák ◽  
Martina Farolfi ◽  
...  
Keyword(s):  
Clinical Outcome ◽  
Dehydrogenase Deficiency ◽  
Screening Program ◽  
Acute Encephalopathy ◽  
Medium Chain ◽  
Chain Acyl ◽  
New Association ◽  
Hydroxyacyl Coa Dehydrogenase ◽  
Presymptomatic Diagnosis ◽  
Long Chain

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD/MTPD) and medium chain acyl-CoA dehydrogenase deficiency (MCADD) were included in the expanded neonatal screening program (ENBS) in Czechia in 2009, allowing for the presymptomatic diagnosis and nutritional management of these patients. The aim of our study was to assess the nationwide impact of ENBS on clinical outcome. This retrospective study analysed acute events and chronic complications and their severity in pre-ENBS and post-ENBS cohorts. In total, 28 children (12 before, 16 after ENBS) were diagnosed with LCHADD/MTPD (incidence 0.8/100,000 before and 1.2/100,000 after ENBS). In the subgroup detected by ENBS, a significantly longer interval from birth to first acute encephalopathy was observed. In addition, improvement in neuropathy and cardiomyopathy (although statistically non-significant) was demonstrated in the post-ENBS subgroup. In the MCADD cohort, we included 69 patients (15 before, 54 after ENBS). The estimated incidence rose from 0.7/100,000 before to 4.3/100,000 after ENBS. We confirmed a significant decrease in the number of episodes of acute encephalopathy and lower proportion of intellectual disability after ENBS (p < 0.0001). The genotype–phenotype correlations suggest a new association between homozygosity for the c.1528C > G variant and more severe heart involvement in LCHADD patients.

scholarly journals An application experience of a specialized product based on 100% medium-chain triglyceride oil in diet therapy of a child with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

2021 ◽  
pp. 106-113
Author(s):  
E. A. Roslavtseva ◽  
T. V. Bushueva ◽  
T. E. Borovik ◽  
E. A. Kulebina ◽  
A. N. Surkov ◽  
...  
Keyword(s):  
Fatty Acids ◽  
Dehydrogenase Deficiency ◽  
Screening Program ◽  
Medium Chain Triglyceride ◽  
Autosomal Recessive Inheritance ◽  
Diet Therapy ◽  
Hereditary Disease ◽  
Medium Chain ◽  
Hydroxyacyl Coa Dehydrogenase ◽  
Long Chain

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a hereditary disease referred to the group of disorders of mitochondrial β-oxidation of fatty acids with autosomal recessive inheritance. The main symptoms include hypoglycemia, hepatic steatosis, cardiomyopathy, cardiac arrhythmias, progressive muscle hypotension. We present a case of successful diagnosis and treatment of a long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) with the use of 100% medium chain triglycerides’ oil product. The importance of the possibly earliest verification of the diagnosis and initiation of diet therapy using medium-chain triglyceride oils is emphasized, which allows to reduce the disease manifestations and determines the need to include diseases of mitochondrial fatty acids β-oxidation into the neonatal screening program.

scholarly journals Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency.

1995 ◽  
Vol 58 (2) ◽  
pp. 209-214 ◽  
Author(s):  
W Ruitenbeek ◽  
P J Poels ◽  
D M Turnbull ◽  
B Garavaglia ◽  
R A Chalmers ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Late Onset ◽  
Acute Encephalopathy ◽  
Medium Chain ◽  
Chain Acyl

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.

scholarly journals Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program

2021 ◽  
Vol 12 ◽  
Author(s):  
Ziga I. Remec ◽  
Urh Groselj ◽  
Ana Drole Torkar ◽  
Mojca Zerjav Tansek ◽  
Vanja Cuk ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Pilot Study ◽  
Genetic Analysis ◽  
Newborn Screening ◽  
Dehydrogenase Deficiency ◽  
Screening Program ◽  
Dried Blood Spots ◽  
Expanded Newborn Screening ◽  
Chain Acyl ◽  
Long Chain

Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare autosomal recessive disorder of fatty acid metabolism with a variable presentation. The aim of this study was to describe five patients with VLCADD diagnosed through the pilot study and expanded newborn screening (NBS) program that started in 2018 in Slovenia. Four patients were diagnosed through the expanded NBS program with tandem mass spectrometry; one patient was previously diagnosed in a pilot study preceding the NBS implementation. Confirmatory testing consisted of acylcarnitines analysis in dried blood spots, organic acids profiling in urine, genetic analysis of ACADVL gene, and enzyme activity determination in lymphocytes or fibroblasts. Four newborns with specific elevation of acylcarnitines diagnostic for VLCADD and disease-specific acylcarnitines ratios (C14:1, C14, C14:2, C14:1/C2, C14:1/C16) were confirmed with genetic testing: all were compound heterozygotes, two of them had one previously unreported ACDVL gene variant each (NM_000018.3) c.1538C &gt; G; (NP_000009) p.(Ala513Gly) and c.661A &gt; G; p.(Ser221Gly), respectively. In addition, one patient diagnosed in the pilot study also had a specific elevation of acylcarnitines. Subsequent ACDVL genetic analysis confirmed compound heterozygosity. In agreement with the diagnosis, enzyme activity was reduced in five patients tested. In seven other newborns with positive screening results, only single allele variants were found in the ACDVL gene, so the diagnosis was not confirmed. Among these, two variants were novel, c.416T &gt; C and c.1046C &gt; A, respectively (p.Leu139Pro and p.Ala349Glu). In the first 2 years of the expanded NBS program in Slovenia altogether 30,000 newborns were screened. We diagnosed four cases of VLCADD. The estimated VLCADD incidence was 1:7,500 which was much higher than that of the medium-chain acyl-CoA dehydrogenase deficiency (MCADD) cases in the same period. Our study also provided one of the first descriptions of ACADVL variants in Central-Southeastern Europe and reported on 4 novel variants.

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