Last update July 6, 2018

Infant Medium Chain Acyl-CoA Dehydrogenase Deficiency

Very Low Risk

Safe. Compatible. Minimal risk for breastfeeding and infant.

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the most frequent congenital disorder of mitochondrial fatty acid oxidation (1 out of every 15,000 births: Orphanet 2018 and 2014, BIMDG 2015, Hsu 2008). MCAD protein is an enzyme that enables the use of fatty acids to produce energy during periods of prolonged fasting or physiological stress (infections, diseases).

Its absence or deficiency cause, in situations of fasting or stress, the recurrent appearance of severe hypoglycaemia (without increase in ketones), lethargy, vomiting, convulsions and coma that endanger life (Hegyi 1992) and neurological prognosis if an urgent medical intervention is not produced (BIMDG 2015 and 2008 OMIM, ORPHANET). It usually begins between 3 and 15 months of age, but it can manifest itself in the neonatal period (Ahrens 2016, BIMDG 2015, Hsu 2008, Derks 2006).

MCAD deficiency is included in neonatal screening programmes in many European countries (Orphanet 2018).

During the neonatal period, more than 3 hours should not pass between breastfeeding or bottle-feeding. Some authors have observed a higher risk of crisis in breastfed infants (Ahrens 2016, Wilcken 1993) but others have not (Derks 2006). In any case, neonatal hypoglycaemia should be prevented and treated with frequent feeds, supplemented with expressed breast milk, milk from a milk bank, milk formula or perfusion of intravenous glucose solution according to the clinical situation (BIMDG 2015).

Most experts and clinical guidelines agree that it is compatible with breastfeeding (Dixon 2009, Roe 1986).

Specialized clinical-dietary monitoring is required. Dietary treatment is aimed at strictly avoiding fasting with safe time intervals between feeds for infants and young children, so frequent breastfeeding is desirable.
Apart from avoiding medium chain triglycerides, no other special dietary restriction is required (Orphanet 2018, Matern 2015, BIMDG 2015, Dixon 2009).

Suggestions made at e-lactancia are done by APILAM team of health professionals, and are based on updated scientific publications. It is not intended to replace the relationship you have with your doctor but to compound it.

Jose Maria Paricio, Founder & President of APILAM/e-Lactancia

Your contribution is essential for this service to continue to exist. We need the generosity of people like you who believe in the benefits of breastfeeding.

Thank you for helping to protect and promote breastfeeding.

José María Paricio, founder of e-lactancia.

Other names

Infant Medium Chain Acyl-CoA Dehydrogenase Deficiency is also known as


Infant Medium Chain Acyl-CoA Dehydrogenase Deficiency in other languages or writings:

Group

Infant Medium Chain Acyl-CoA Dehydrogenase Deficiency belongs to this group or family:

References

  1. OrphaNet. Deficiencia de acil-coenzima A deshidrogenasa de cadena media. Portal de información de enfermedades raras y medicamentos huérfanos. 2018 Full text (link to original source) Full text (in our servers)
  2. Ahrens-Nicklas RC, Pyle LC, Ficicioglu C. Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency. Genet Med. 2016 Abstract Full text (link to original source) Full text (in our servers)
  3. BIMDG - British Inherited Metabolic Disease Group. MCAD deficiency. Management of newborn babies with a family history. 2015 Full text (link to original source) Full text (in our servers)
  4. Matern D, Rinaldo P. Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. GeneReviews. 2015 Abstract Full text (link to original source) Full text (in our servers)
  5. Orphanet & François Feillet (Nancy). La deficiencia de MCAD. Enciclopedia Orphanet para el público en general. 2014 Full text (link to original source) Full text (in our servers)
  6. OMIM - Online Mendelian Inheritance in Man. Medium-chain acyl-CoA dehydrogenase deficiency; ACADMD. OMIM. 2014 Full text (link to original source) Full text (in our servers)
  7. Orphanet & Feillet F (CHU Nancy). Déficit en acyl-CoA déshydrogénase des acides gras à chaîne moyenne (MCADD). Encyclopédie Orphanet Grand Public. 2014 Full text (link to original source) Full text (in our servers)
  8. Dixon M, Champion M & British Inherited Metabolic Disease Group (BIMDG). MCADD. Dietary management guidelines for dietitians 2009 Full text (link to original source) Full text (in our servers)
  9. BIMDG - British Inherited Metabolic Disease Group. MCADD. Acute illness/Decompensation. 2008 Full text (link to original source) Full text (in our servers)
  10. Hsu HW, Zytkovicz TH, Comeau AM, Strauss AW, Marsden D, Shih VE, Grady GF, Eaton RB. Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening. Pediatrics. 2008 Abstract
  11. Derks TG, Reijngoud DJ, Waterham HR, Gerver WJ, van den Berg MP, Sauer PJ, Smit GP. The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome. J Pediatr. 2006 Abstract
  12. Wilcken B, Carpenter KH, Hammond J. Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency. Arch Dis Child. 1993 Abstract Full text (link to original source) Full text (in our servers)
  13. Hegyi T, Ostfeld B, Gardner K. Medium chain acyl-coenzyme A dehydrogenase deficiency and SIDS. N J Med. 1992 Abstract
  14. Roe CR, Millington DS, Maltby DA, Kinnebrew P. Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes. J Pediatr. 1986 Abstract

Total visits

5,331

Help us improve this entry

How to cite this entry

Do you need more information or did not found what you were looking for?

   Write us at elactancia.org@gmail.com

e-lactancia is a resource recommended by IHAN of Spain

Would you like to recommend the use of e-lactancia? Write to us at corporate mail of APILAM