Article

Perioperative Anesthetic Considerations in 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency: Case Report and Literature Review

2025-09-23

Abstract excerpt

<h4>Background: </h4> /Objectives: 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) is an extremely rare autosomal recessive metabolic disorder caused by mutations in the HMGCL gene. HMGCLD disrupts ketogenesis and β-oxidation, leading to energy failure during fasting or stress, with clinical episodes characterized by hypoglycemia, hyperammonemia, lactic acidosis, and encephalopathy. Only 211 cases have be...

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Literature Corpus work: ba6caa9f-ecd2-5d1e-81e6-181914b1b295
DOI: 10.20944/preprints202509.1925.v1

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