Insulin therapy in acute decompensation of holocarboxylase synthetase deficiency with hyperglycemia and ketoacidosis

An 11-month-old girl with severe acidosis, lethargy and vomiting, was diagnosed with holocarboxylase synthetase deficiency. She received biotin and was stable until age 8 years when vomiting, severe acidosis, hypoglycemia, and hyperammonemia developed. Management with intravenous glucose aiming to s...

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Autori principali:	Tanguy Demaret, Jean-Sébastien Joyal, Aspasia Karalis, Fabienne Parente, Marie-Ange Delrue, Grant A. Mitchell
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Elsevier 2024-06-01
Serie:	Molecular Genetics and Metabolism Reports
Soggetti:	Biotin Glucose intolerance l-carnitine Glucose-stimulated insulin secretion Diabetic ketoacidosis Lactic acidosis
Accesso online:	http://www.sciencedirect.com/science/article/pii/S2214426924000260
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