Medium-chain triglyceride loading has no diagnostic power in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

1996 ◽  
Vol 19 (3) ◽  
pp. 376-377 ◽  
Author(s):  
C. G. Costa ◽  
I. Tavares de Almeida ◽  
C. Jakobs ◽  
M. Duran ◽  
B. T. Poll-The
Keyword(s):  
Dehydrogenase Deficiency ◽  
Medium Chain Triglyceride ◽  
Medium Chain ◽  
Hydroxyacyl Coa Dehydrogenase ◽  
Diagnostic Power ◽  
Long Chain

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 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.

The safety of Lipistart, a medium-chain triglyceride based formula, in the dietary treatment of long-chain fatty acid disorders: a phase I study

2018 ◽  
Vol 31 (3) ◽  
pp. 297-304
Author(s):  
Anita MacDonald ◽  
Rachel Webster ◽  
Matthew Whitlock ◽  
Adam Gerrard ◽  
Anne Daly ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Linoleic Acid ◽  
Phase I ◽  
Dehydrogenase Deficiency ◽  
Medium Chain Triglyceride ◽  
Chain Fatty Acid ◽  
Infants And Children ◽  
Long Chain Fatty Acid ◽  
Medium Chain ◽  
Long Chain

Abstract Background: Children with long-chain fatty acid β-oxidation disorders (LCFAOD) presenting with clinical symptoms are treated with a specialist infant formula, with medium chain triglyceride (MCT) mainly replacing long chain triglyceride (LCT). It is essential that the safety and efficacy of any new specialist formula designed for LCFAOD be tested in infants and children. Methods: In an open-label, 21-day, phase I trial, we studied the safety of a new MCT-based formula (feed 1) in six well-controlled children (three male), aged 7–13 years (median 9 years) with LCFAOD (very long chain acyl CoA dehydrogenase deficiency [VLCADD], n=2; long chain 3-hydroxyacyl CoA dehydrogenase deficiency [LCHADD], n=2; carnitine acyl carnitine translocase deficiency [CACTD], n=2). Feed 1 (Lipistart; Vitaflo) contained 30% energy from MCT, 7.5% LCT and 3% linoleic acid and it was compared with a conventional MCT feed (Monogen; Nutricia) (feed 2) containing 17% energy from MCT, 3% LCT and 1.1% linoleic acid. Subjects consumed feed 2 for 7 days then feed 1 for 7 days and finally resumed feed 2 for 7 days. Vital signs, blood biochemistry, ECG, weight, height, food/feed intake and symptoms were monitored. Results: Five subjects completed the study. Their median daily volume of both feeds was 720 mL (range 500–1900 mL/day). Feed 1 was associated with minimal changes in tolerance, free fatty acids (FFA), acylcarnitines, 3-hydroxybutyrate (3-HB), creatine kinase (CK), blood glucose, liver enzymes and no change in an electrocardiogram (ECG). No child complained of muscle pain or symptoms associated with LCFAOD on either feed. Conclusions: This is the first safety trial reported of an MCT formula specifically designed for infants and children with LCFAOD. In this short-term study, it appeared safe and well tolerated in this challenging group.

Gastric Lipolysis and Fat Absorption in Preterm Infants: Effect of Medium-Chain Triglyceride or Long-Chain Triglyceride-Containing Formulas

PEDIATRICS ◽  
1989 ◽  
Vol 83 (1) ◽  
pp. 86-92 ◽  
Author(s):  
Margit Hamosh ◽  
Joel Bitman ◽  
Teresa H. Liao ◽  
N. R. Mehta ◽  
R. J. Buczek ◽  
...  
Keyword(s):  
Fatty Acids ◽  
Fatty Acid ◽  
Weight Gain ◽  
Preterm Infants ◽  
Lipase Activity ◽  
Medium Chain Triglyceride ◽  
Fat Absorption ◽  
Medium Chain ◽  
Long Chain ◽  
Long Chain Triglyceride

The extent of gastric lipolysis, fat absorption, and infant weight gain was studied in 12 preterm infants (gestational age 28.75 ± 0.50 weeks, postnatal age 6.08 ± 0.81 weeks) fed medium-chain triglyceride or long-chain triglyceride formula for 1 week in a crossover design. The former formula contained 42% of 8:0 and 10:0 and 19% of 12:0, 14:0, and 16:0; the latter formula contained only 7% of 8:0 and 10:0 and 46% of 12:0, 14:0, and 16:0. Gastric aspirates were obtained on the second and third day of formula feeding for quantitation of lipase activity and of the extent of gastric lipolysis. Fat balance studies were conducted during the last three days of each feeding regimen. The study showed that (1) there was marked hydrolysis of formula fat in the stomach during feeding of either medium-chain triglyceride formula or long-chain triglyceride formula (20% and 16%, respectively); (2) lipase activity in the gastric aspirates was less during feeding of medium-chain triglyceride formula than before the meal, which suggested stimulation of lipase secretion by long-chain fatty acid released from long-chain triglyceride formula fat or more rapid binding of lipase to ingested lipid in the medium-chain triglyceride formula; (3) fatty acid distribution in glycerides and free fatty acids showed preferential release of medium-chain (8:0, 10:0) and long-chain unsaturated (18:1, 18:2) fatty acids in the stomach. The low content of 8:0 and 10:0 in gastric triglyceride and free fatty acids suggested that medium-chain fatty acids were absorbed directly in the stomach. (4) fat balance studies showed almost identical absorption rates (84.6% ± 3.1% and 82.8% ± 4.0%) and weight gain (23.0 ± 1.5 g/d and 20.8 ± 1.8 g/d) during feeding of either medium-chain triglyceride or long-chain triglyceride formula. In this study, in which each infant was fed either formula alternately, it was shown that although the extent of fat digestion varied among infants, medium-chain and long-chain triglyceride were absorbed to the same extent by most infants.

scholarly journals High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland

PLoS ONE ◽  
2017 ◽  
Vol 12 (11) ◽  
pp. e0187365 ◽  
Author(s):  
Bogusław Nedoszytko ◽  
Alicja Siemińska ◽  
Dominik Strapagiel ◽  
Sławomir Dąbrowski ◽  
Marcin Słomka ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
High Prevalence ◽  
Hadha Gene ◽  
Hydroxyacyl Coa Dehydrogenase ◽  
Long Chain
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