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3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces

Sarah C Grünert1, Jörn Oliver Sass2

  • 1Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Mathildenstr. 1, 79106, Freiburg, Germany. Sarah.gruenert@uniklinik-freiburg.de.

Orphanet Journal of Rare Diseases
|February 16, 2020
PubMed
Abstract

Keywords:
HMGCLHyperammonemiaHypoglycemiaInborn error of metabolismKetogenesisKetone bodyLeucineMetabolic acidosisMetabolic decompensationOrganic aciduria

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