Article

Mitochondrial HMG-CoA Synthase Deficiency in Vietnamese Patients

2025-01-20

Abstract excerpt

<h4>Background: </h4> Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMGCS2D) is a rare metabolic disorder that impairs the body's ability to produce ketone bodies and regulate energy metabolism. Diagnosing HMGCS2D is challenging because patients typically remain asymptomatic unless experiencing fasting or illness. Due to the absence of reliable biochemical markers, genetic testing has beco...

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Literature Corpus work: 204fc7da-b699-56ac-961e-ebb3adcd436c
DOI: 10.20944/preprints202501.1433.v1

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