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Pediatric and Adolescent Endocrinology

SUN-193 - Normoglycemic Ketosis in A Child with Novel ACADM Gene Variant: An Atypical Presentation of Medium-Chain Acyl-Coa Dehydrogenase Deficiency

Sunday, June 14, 2026
9:00 AM - 4:00 PM CT
Location: ENDOExpo; Poster Floor
Disclosure(s):
Sai Prasad, MBBS: No financial relationships to disclose


Background:
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) typically presents with hypoketotic hypoglycemia during periods of metabolic stress. Normoglycemic ketosis is an exceptionally rare presenting feature that poses a diagnostic challenge.

Case Presentation:
We report a case of a 7-year-old girl who presented with recurrent episodes of morning nausea and lethargy over 2 months, including a brief episode of confusion. Symptoms were consistently triggered by fasting and rapidly resolved after carbohydrate intake. Despite normal physical examination and imaging, biochemical evaluation during a symptomatic episode revealed normal blood glucose (88 mg/dL) with marked ketonemia (serum β-hydroxybutyrate, 4.2 mmol/L), and mild metabolic acidosis. The plasma acylcarnitine profile showed mild elevations in C8, C10, and C10:1, with mildly elevated medium-chain dicarboxylic acids in the urine organic acid analysis. Whole-exome sequencing identified a novel heterozygous variant of the ACADM gene, confirming the atypical presentation of MCADD.
Management and Outcome: The patient was managed acutely with intravenous dextrose and subsequently maintained on strict avoidance of prolonged fasting, bedtime snacks, high-carbohydrate diet, and l-carnitine supplementation. At the 3-month follow-up, she remained symptom-free, with normalized biochemical markers and normal growth and development.

Conclusion:
This case highlights an uncommon MCADD phenotype presenting with normoglycemic ketosis rather than the typical hypoglycemic presentation. Fatty acid oxidation disorders should be considered in children with fasting-induced symptoms and ketosis, even when the blood glucose levels remain normal.

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