3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment

1991 ◽  
Vol 150 (3) ◽  
pp. 190-195 ◽  
Author(s):  
M. Duran ◽  
R. J. A. Wanders ◽  
J. P. de Jager ◽  
L. Dorland ◽  
L. Bruinvis ◽  
...  
Keyword(s):  
Protective Effect ◽  
Neonatal Death ◽  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Medium Chain Triglyceride ◽  
Medium Chain ◽  
Long Chain

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.

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.

A fatal neonatal case of medium-chain acyl-coenzyme a dehydrogenase deficiency with homozygous A→G985 transition

1992 ◽  
Vol 121 (6) ◽  
pp. 965-968 ◽  
Author(s):  
Kin-Chuen Leung ◽  
Judith W. Hammond ◽  
Shilpi Chabra ◽  
Kevin H. Carpenter ◽  
Mary Potter ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Medium Chain ◽  
Chain Acyl ◽  
Acyl Coenzyme A

Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome

1993 ◽  
Vol 122 (5) ◽  
pp. 715-718 ◽  
Author(s):  
Raanan Arens ◽  
David Gozal ◽  
Karen Jain ◽  
Shamshad Muscati ◽  
Eva T. Heuser ◽  
...  
Keyword(s):  
Sudden Infant Death Syndrome ◽  
Infant Death ◽  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Sudden Infant Death ◽  
Sudden Infant ◽  
Medium Chain ◽  
Chain Acyl ◽  
Acyl Coenzyme A

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.

Familial Reye-Like Syndrome: A Presentation of Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

PEDIATRICS ◽  
1987 ◽  
Vol 79 (3) ◽  
pp. 382-385
Author(s):  
Bruce Taubman ◽  
Daniel E. Hale ◽  
Richard I. Kelley
Keyword(s):  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Term Therapy ◽  
Reye Syndrome ◽  
Medium Chain ◽  
Chain Acyl ◽  
History Of ◽  
Acyl Coenzyme A ◽  
Long Term Therapy

A 20-month-old girl with a family history of two siblings who died of an encephalopathy diagnosed as Reye syndrome presented to an emergency room in hypoglycemic coma and was found to have medium-chain acyl-coenzyme A dehydrogenase deficiency. The salient clinical and biochemical features of this newly described inborn error of fatty acid metabolism are described and contrasted to those of classical Reye syndrome. Important clues that should lead the clinician to suspect this disorder, methods of diagnosis, and appropriate acute and long-term therapy are also discussed.

Sign in / Sign up

Export Citation Format

Share Document