SHM Converge Scientific Abstract ePoster Gallery-Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency Manifesting in a Neonate Following Cardiac Arrest

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This case describes a term, exclusively breastfed neonate who was discharged from the nursery at 36 hours of life but had difficulty latching and feeding after discharge. At 45 hours of life, he presented to the emergency room in cardiorespiratory arrest with profound hypoglycemia, severe acidosis, fixed and dilated pupils, and no pulse. He was resuscitated successfully with CPR and advanced life support, then transferred to the PICU for post-cardiac arrest care.<br /><br />Initial evaluation showed severely depressed left ventricular function and brain MRI findings consistent with hypoxic-ischemic injury. A sepsis workup was negative, prompting metabolic testing. Results, including elevated lactate, ketonuria, and an abnormal acylcarnitine profile, strongly suggested medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD). Newborn screening later confirmed MCADD, and genetic testing identified a homozygous ACADM variant (c.985A>G, p.Lys329Glu). The patient was treated with levocarnitine and riboflavin supplementation, as recommended by genetics.<br /><br />During hospitalization, the infant was hypoglycemic and had poor weight gain, requiring continuous feeds and close glucose monitoring. He was eventually extubated, improved neurologically and cardiorespiratory, and repeat brain MRI and echocardiogram normalized. He was discharged tolerating oral feeds, gaining weight, and continuing L-carnitine, with a family emergency plan in place.<br /><br />The report emphasizes that undiagnosed MCADD in neonates can lead to metabolic crisis, cardiopulmonary arrest, and death. It can mimic sepsis, especially in otherwise healthy, exclusively breastfed infants with feeding difficulties. Early recognition, glucose monitoring, and prompt treatment are critical for survival and long-term outcome.

Asset Subtitle

Reesha Bodiwala

Meta Tag

Author List Farah Alfarajat, Kate Waldeck, Reesha Bodiwala, Sharmila Jai Kumar

Category Clinical Vignettes

Concept Medium-Chain Acyl-CoA Dehydrogenase Deficiency

Concept Hypoglycemia

Concept Fasting

Concept Glucose Support

Concept Avoidance of Fasting

Distinguished Non-Finalist

Presenter Organization Marshall University JCESOM, Marshall University Internal Medicine & Pediatrics Residency Program

Presenting Author Reesha Bodiwala

Track Pediatric

Keywords

medium-chain acyl-coenzyme A dehydrogenase deficiency

MCADD

neonate

hypoglycemia

cardiorespiratory arrest

exclusive breastfeeding

ACADM variant

metabolic crisis

newborn screening

levocarnitine

Medium-Chain Acyl-CoA Dehydrogenase Deficiency

Hypoglycemia

Fasting

Glucose Support

Avoidance of Fasting