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.
Highlights
Tion with hypoglycemia, hyperammonemia, seizures, coma, and death
Tosemia, medium chain acyl-CoA dehydrogenase deficiency and other inborn errors of metabolism may require management strategies that deviate from standard protocols to avoid adverse outcomes
Appropriate means of nutritional support for the baby’s prematurity, prior to return of the newborn screening (NBS) results, led to extraordinarily high intermediates of medium chain fat metabolism in blood and urine recognized by diagnostic testing, placing the patient at risk for metabolic decompensation
Summary
A G2 P1 woman gave birth at 33 weeks to a phenotypically normal male, approximately 25 hours after premature membrane rupture, following an otherwise uneventful. Of life ordered diagnostic biochemical genetic assessments (acylcarnitine profile and urine organic acids) that were returned the same day, noting highly atypical representation of potentially toxic medium chain fat metabolites in blood and urine. As screened disorders are typically asymptomatic in the first few days of life, newborn screen results should be reviewed prior to prescribing a nutritional regimen for premature infants. In this regard, it is reasonable to build alerts into the electronic medical record to cross reference newborn screen results to nursery feeding orders to identify and alert clinicians to potentially contraindicated nutrients or supplements.
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