Neonatal metabolic crisis: a case report of HMG-CoA lyase deficiency

Abstract

3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency is a rare autosomal recessive metabolic disorder characterized by impaired ketogenesis and leucine catabolism, leading to nonketotic hypoglycemia, hyperammonemia, and metabolic acidosis. We present a case of a three-day-old male neonate who exhibited poor feeding, lethargy, and respiratory distress, progressing to clonic seizures and severe metabolic decompensation. Initial laboratory findings revealed hypoglycemia, hyperlactatemia, hyperammonemia, and metabolic acidosis with absent ketones. A comprehensive metabolic workup, including urinary organic acid analysis and tandem mass spectrometry, confirmed the diagnosis of HMG-CoA lyase deficiency. The neonate was managed with intravenous dextrose, sodium bicarbonate, and L-carnitine supplementation, leading to gradual clinical improvement. This case highlights the importance of early recognition and prompt management of inborn errors of metabolism, particularly in neonates presenting with acute metabolic crises. The report underscores the need for comprehensive newborn screening to facilitate early diagnosis and prevent life-threatening complications.