Related Experiment Video
Updated: May 9, 2026

Single Synapse Indicators of Glutamate Release and Uptake in Acute Brain Slices from Normal and Huntington Mice
Published on: March 11, 2020
Subependymal mass lesions and peripheral polyneuropathy in adult-onset glutaric aciduria type I
Moshe Herskovitz1, Dorith Goldsher, Ben-Ami Sela
1Rambam Health Care Campus, Haifa, Israel. m_herskovitz@rambam.health.gov.il
Abstract:
Glutaric aciduria type I (GA-I) is an autosomal recessive disease caused by a deficiency of the mitochondrial enzyme glutaryl CoA dehydrogenase (GCDH). This metabolic block causes increased urinary concentrations of glutaric and 3-hydroxyglutaric acids. The accumulation and excretion of glutarylcarnitine esters leads to secondary carnitine deficiency. GA-I has an incidence of 1:30,000. The clinical hallmark of GA-I is an acute encephalopathic crisis, with bilateral striatal necrosis presented by severe dystonic dyskinetic disorder. Most patients have their first symptoms during infancy, but some have a less severe form of the disease and some may even remain asymptomatic.
Related Concept Videos
Lysosomal Hydrolases
Antiepileptic Drugs: Glutamate Antagonists
Inborn Errors of Metabolism
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:
Type I Diabetes III: Clinical Manifestations
Type I Diabetes I: Introduction

