Medium chain acyl-CoA dehydrogenase deficiency in a premature infant

Abstract

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is identified by newborn screening (NBS). The natural history of MCADD includes metabolic decompensation with hypoglycemia, hyperammonemia, seizures, coma, and death. NBS enables expectant management thus severe symptoms are rare in managed patients. We report premature birth of an MCADD affected infant and resultant management challenges. Nutritional support advanced from parenteral nutrition at 24 hours to enteral feeds. A NBS sample was collected day 2, positive results for MCADD was reported day six, and diagnostic tests were performed day seven. Lab results confirmed MCADD; however, representation of pathologic analytes was so extreme that ingestion of medium chain triglycerides was suspected and subsequently confirmed. Diet was adjusted and reflected in moderation of pathologic analytes. This case emphasizes the need for prompt review NBS results in premature infants. Implementing informatic intervention within electronic medical records, when a disorder requiring special nutritional intervention is identified, will protect premature infants in this vulnerable setting. Standard of care management provided premature infants may be contraindicated in the context of a comorbid inborn error of metabolism.

Keywords: MCAD deficiency; decompensation; medium chain triglycerides; nutritional support; prematurity.

Figure 1.

Acylcarnitine tandem mass spectrometry profile of MCAD-affected Patient at day 7 of life. Tandem mass spectrometry assessment of acylcarnitine esters. C8 = eight carbon acylcarnitine ester, C8 IS = stable isotope labeled eight carbon acylcarnitine internal standard, C6 = six carbon acylcarnitine ester, C6 IS = stable isotope labeled six carbon acylcarnitine internal standard.