Last update: July 6, 2018

Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency

Low Risk for breastfeeding


Moderately safe. Probably compatible.
Mild risk possible. Follow up recommended.
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Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive congenital disorder of mitochondrial oxidation of very long chain fatty acids. It results from autosomal recessive inheritance, with a frequency of 1 in 30,000 to 50,000 births (Leslie 2018, OMIM 2017, GARD 2015, ORPHANET 2014, Arnold 2009).

The impossibility of using Long Chain Triglycerides (LCT) to produce energy during periods of prolonged fasting or physiological stress (infections, diseases) causes low blood sugar levels (hypoglycemia, not ketotic), lack of energy and muscle weakness. Very long chain fatty acids are an important source of energy for the heart and muscles (GARD 2015).

Presentation can be early, even neonatal, with high incidence of cardiomyopathy, pericardial effusion, arrhythmias and high mortality, but many patients remain asymptomatic and are diagnosed during childhood via non-ketotic hypoglycemia crisis or in adulthood due to cardiac and skeletal muscle involvement with rhabdomyolysis and myoglobinuria following exercise or fasting (Leslie 2018, OMIM 2017, NORD 2016, GARD 2015, Pervaiz 2011, Arnold 2009, Boles 2002).

Very few patients have been observed worldwide (ORPHANET 2014, Spiekerkoetter 2009). Many neonatal screening programmes include VLCADD detection.

Breastmilk has practically the same level of medium chain triglycerides (MCT) as formulas enriched with MCT, but it has a higher concentration of LCT and less MCT than formulas highly enriched with MCT (Arnold 2009).

There is no consensus on whether breastfeeding is always possible (Potter 2012, Pervaiz 2011, Arnold 2009). Most experts recommended breastfeeding supplemented with a formula enriched with MCT in asymptomatic infants and as long as cardiac function remains normal (Arnold 2009).

Dietary treatment consists of avoiding prolonged periods of fasting through regular meals, a low-fat diet (especially LCT), and one which is rich in carbohydrates and supplemented with MCT (Leslie 2018, GARD 2015, OFPHANET 2014, Potter 2012, Pervaiz 2011, Arnold 2009), which manages to reverse cardiological symptoms (Spiekerkoetter 2003, Cox 1998, Brown 1996).

MOTHER AFFECTED by VLCADD: When the mother is affected, the disease usually improves during pregnancy, but delivery and postpartum are periods of increased energy expenditure and risk of rhabdomyolysis and myoglobinuria. Dietary measures and greater vigilance are prescribed (Leslie 2018, Yamamoto 2015, Mendez 2010). During breastfeeding a daily increase of 1,000 calories is recommended (Mendez 2010)

Suggestions made at e-lactancia are done by APILAM´s pediatricians and pharmacists, and are based on updated scientific publications.
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References

  1. Leslie ND, Valencia CA, Strauss AW, Zhang K. Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. GeneReviews. 2018 Abstract Full text (link to original source) Full text (in our servers)
  2. OMIM - Online Mendelian Inheritance in Man. Very long-chain acyl-CoA dehydrogenase deficiency; ACADVLD. OMIM.org 2017 Full text (link to original source) Full text (in our servers)
  3. Yamamoto H, Tachibana D, Tajima G, Shigematsu Y, Hamasaki T, Tanaka A, Koyama M. Successful management of pregnancy with very-long-chain acyl-coenzyme A dehydrogenase deficiency. J Obstet Gynaecol Res. 2015 Abstract
  4. GARD. Genetic and Rare Diseases information center VLCAD deficiency NIH-GARD. 2015 Full text (link to original source) Full text (in our servers)
  5. Orphanet. Very long-chain acyl-CoA dehydrogenase (VLCADD). The portal for rare diseases and orphan drugs. 2014 Full text (link to original source) Full text (in our servers)
  6. Orphanet. Portal de información de enfermedades raras y medicamentos huérfanos Deficiencia de acil CoA-deshidrogenasa de cadena muy larga (VLCADD). Orpha.net 2014 Full text (link to original source) Full text (in our servers)
  7. Potter BK, Little J, Chakraborty P, Kronick JB, Evans J, Frei J, Sutherland SC, Wilson K, Wilson BJ. Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians. J Inherit Metab Dis. 2012 Abstract
  8. Pervaiz MA, Kendal F, Hegde M, Singh RH. MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency. Indian J Hum Genet. 2011 Abstract Full text (link to original source) Full text (in our servers)
  9. Mendez-Figueroa H, Shchelochkov OA, Shaibani A, Aagaard-Tillery K, Shinawi MS. Clinical and biochemical improvement of very long-chain acyl-CoA dehydrogenase deficiency in pregnancy. J Perinatol. 2010 Abstract Full text (link to original source) Full text (in our servers)
  10. Arnold GL, Van Hove J, Freedenberg D, Strauss A, Longo N, Burton B, Garganta C, Ficicioglu C, Cederbaum S, Harding C, Boles RG, Matern D, Chakraborty P, Feigenbaum A. A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab. 2009 Abstract Full text (link to original source) Full text (in our servers)
  11. Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner MR, Boehles H, Das A, Haase C, Hennermann JB, Karall D, de Klerk H, Knerr I, Koch HG, Plecko B, Röschinger W, Schwab KO, Scheible D, Wijburg FA, Zschocke J, Mayatepek E, Wendel U. Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop. J Inherit Metab Dis. 2009 Abstract
  12. Spiekerkoetter U, Sun B, Zytkovicz T, Wanders R, Strauss AW, Wendel U. MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency. J Pediatr. 2003 Abstract
  13. Spiekerkoetter U, Tenenbaum T, Heusch A, Wendel U. Cardiomyopathy and pericardial effusion in infancy point to a fatty acid b-oxidation defect after exclusion of an underlying infection. Pediatr Cardiol. 2003 Abstract
  14. Boles RG. Very long-chain acyl-CoA dehydrogenase deficiency in an infant presenting with massive hepatomegaly. J Inherit Metab Dis. 2002 Abstract
  15. Cox GF, Souri M, Aoyama T, Rockenmacher S, Varvogli L, Rohr F, Hashimoto T, Korson MS. Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr. 1998 Abstract
  16. Brown-Harrison MC, Nada MA, Sprecher H, Vianey-Saban C, Farquhar J Jr, Gilladoga AC, Roe CR. Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy. Biochem Mol Med. 1996 Abstract

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