Neonatal metabolic crisis: a case report of HMG-CoA lyase deficiency
Year: 2025
Type: article
Study design: Case Report
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.
Authors: Amrutha Nandini Ratnapu, Venkataramana Reddy, Chapay Soren, M. Geethika, K. Puja Devi
Institution: SVS Medical College
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4408811968