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Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD): A Case of Recurrent Vomiting and Diarrhea
International Journal of Genetics and Genomics
Volume 8, Issue 4, December 2020, Pages: 127-132
Received: Sep. 26, 2020; Accepted: Oct. 10, 2020; Published: Oct. 20, 2020
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Dian Sulistya Ekaputri, Department of Child Health, Medical Faculty, Udayana University, Denpasar, Indonesia
I. Gusti Lanang Sidiartha, Department of Child Health, Medical Faculty, Udayana University, Denpasar, Indonesia
I. Gusti Ayu Putu Eka Pratiwi, Department of Child Health, Medical Faculty, Udayana University, Denpasar, Indonesia
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Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is the commonest fatty acid oxidation disorder. Patients usually presented between the ages of 4 months and 4 years with acute hypoglycaemic encephalopathy and liver dysfunction; some deteriorated rapidly and died. Symptomatic presentation of MCADD is precipitated by fasting due to infection, characterized by metabolic crisis, includes lethargy, vomiting, hypoketotic hypoglycaemia, and encephalopathy, and could progress to coma and death. MCADD is not part of new-born screening in Indonesia; children are likely to be missed if routine hypoglycaemia screening is not instituted. This is a case of an otherwise healthy 8-month-old baby boy who presented with recurrent infection followed by severe hypoglycaemia and cow’s milk protein allergy presentation with some initial diagnostic dilemma. This study was to describe the clinical manifestation, workup diagnostic, and management in children with MCADD disorder. An eight-months-old boy came with recurrent hypoglycaemia following infections. Blood gas analysis showed acidosis metabolic with increase anion gap. Patient was moderate malnutrition due to recurrent illness. There was no consanguineous in his parents. Laboratory test revealed leucocytosis, hypoglycaemia, and metabolic acidosis. No ketone on urine sample. Short chain fatty acid decrease. Ig-E total increase and benzidine test positive. Dried blood spots and urine spot by liquid chromatography-tandem mass spectrometry revealed of MCADD. Patient was given intravenous fluid containing dextrose, treated by antibiotics for infection, and recovered after few days hospitalization. Patient was also given amino-acid-based formula and he responds was good. Parent were educated for the illness and told to avoided fasting for long period. Children with MCADD should remain under follow-up with a specialist Metabolic Paediatrician Consultant and Dietician with regular reviews in early childhood. Parents should be allowed direct access to the local hospital’s paediatric service so that lengthy waits in emergency departments are avoided.
MCADD, Children, Hypoglycemia
To cite this article
Dian Sulistya Ekaputri, I. Gusti Lanang Sidiartha, I. Gusti Ayu Putu Eka Pratiwi, Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD): A Case of Recurrent Vomiting and Diarrhea, International Journal of Genetics and Genomics. Vol. 8, No. 4, 2020, pp. 127-132. doi: 10.11648/j.ijgg.20200804.12
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This article is an open access article distributed under the Creative Commons Attribution License ( which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Saudubray, J. M., Baumgartnes, M. R.. (2016). Inborn metabolic diseases. 6th ed. Berlin: Springer; p. 203-14.
Drendel, H. M., Pike, J. E., Schumacher, K., Ouyang, K., Wang, J., Stuy, M., et al. (2015). Intermediate MCAD deficiency associated with a novel mutation of the ACADM gene. Case Rep Genet. 532090.
Maduemem, K. E.. (2016). Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD): a cause of severe hypoglycemia in an apparently well child. BMJ Case Rep. bcr2016217538.
Vishwanath, V. A. (2016). Fatty acid beta-oxidation disorders: a brief review. Ann Neurosci. 23 (1): 51-5.
Merritt, J. L, Norris, M., Kanungo, S. (2018). Fatty acid oxidation disorders. Ann Transl Med. 6 (24): 473-87.
Jameson, E and Walter, J. H. (2019). Medium-chain acyl-CoA dehydrogenase deficiency. Ped and Child Health. 29 (3): 123-6.
Prasad, C., Speechley, K. N., Dyack, S., Rupar, C. A., Chakraborty, P., Kronick, J. B. (2012). Incidence of medium-chain acyl-coa dehydrogenase deficiency in Canada using the Canadian Paediatric Surveillance Program: Role of newborn screening. Paediatr Child Health. 17 (4): 185-9.
Hall, P. L., Wittenauer, A., Hagar, A. (2014). Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: performance improvement by monitoring a new ratio. Mol Genet Metab. 113 (4): 274-7.
Lau, N., Duran, M., Gibson, K. M., et al. (2014). Physician’s Guide to the Diagnosis, Treatment and Follow-Up of Inherited Metabolic Diseases. Springer. p. 247–264.
Alharbi, A., Albelowi, A., Alsharif, A., Alsharif, E., Hasosah, M. (2018). Cow's Milk Protein Allergy Presented with Generalized Edema: Case Report and Review of the Literature. J Gastroenterol Hepatol Endosc. 3 (1): 1039-42.
Longo, N., Frigeni, M., Pasquali, M. (2016). Carnitine transport and fatty acid oxidation. Biochim Biophys Acta. 1863 (10): 2422-35.
Karaceper, M. D., Khangura, S. D., Wilson, K., Coyle, D., Brownell M., Davies, C. et al. (2019). Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada. Orphanet J Rare Dis. 14 (1): 70-80.
Uleanya, N. D., Aniwada, E. C., Nwokoye, I. C., Ndu, I. K., Eke, C. B. Relationship between Glycemic Levels and Treatment Outcome among Critically Ill Children admitted into Emergency Room in Enugu. BMC Pediatr. 2017: 126-33.
Alfonso, C. S., Bennet, M. J., Ficicioglu C. (2016). Screening for medium-chain acyl CoA dehydrogenase deficiency: current perspectives. Research and Reports in Neonatology. 1 (1): 1-10.
Fox, A., Brown, T., Walsh, J., Venter, C., Meyer, R., Nowak-Wegrzyn, A., et al. (2019). An update to the Milk Allergy in Primary Care guideline. Clinical and translational allergy. 9 (40): 1-10.
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