Related Experiment Video
Updated: Aug 19, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
[3-Hydroxy-3-methyl-glutaryl-CoA-lyase deficiency as coma etiology in the neonatal period: case report]
E B Casella1, F R Martins, I K Miura
1Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (FMUSP), Brasil. erasmobc-icr.hcnet.usp.br
Abstract:
We report a patient that presented two episodes of coma in the neonatal period, with severe metabolic acidosis and hypoglycemia, without ketosis. The urinary organic acid analysis showed increased amounts of 3-hydroxy-3-methyl-glutaric, 3-methylglutaconic, 3-methylglutaric and 3-hydroxyisovaleric acid. The deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase was diagnosed by the clinical and metabolic features. This disease shows autosomal recessive inheritance and the treatment is done by a diet with restriction of protein (mainly leucine) and lipids, high in carbohydrate content, and the avoidance of fasting and carnitine supplementation.
Related Concept Videos
Glucose Transporters
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Loss of Carboxy Group as CO2: Decarboxylation of Malonic Acid Derivatives
Inborn Errors of Metabolism
Diabetic Ketoacidosis l: Introduction
Diabetic Ketoacidosis ll: Pathophysiology
Hepatic Encephalopathy

