Increasing evidence suggests that patients with L2-HGA have a predisposition to cerebral
neoplasms. This may be related to the pathologic accumulation of L2-HG because high …

Abstract l-2-Hydroxyglutaric aciduria (l-2-OHGA) is a rare autosomal recessive inherited
encephalopathy. This inborn error, characterized by psychomotor retardation, progressive …

Abstract l-2-Hydroxyglutaric (l-2-HG) aciduria is a rare inherited metabolic disease usually
observed in children. Patients present a very slowly progressive deterioration with cerebellar …

We studied 21 patients, from 18 families, with L‐2‐hydroxyglutaric aciduria (L‐2‐HGA), a
rare neurometabolic disorder with a homogeneous presentation: progressive …

Purpose: To describe the pattern of magnetic resonance (MR) imaging abnormalities in l-2-
hydroxyglutaric aciduria (L2HGA) and to evaluate the correlation between imaging …

Abstract L-2-Hydroxyglutaric aciduria (L-2-HGA, MIM 236792) is a rare autosomal recessive
neurodegenerative disorder characterized by psychomotor delay, cerebellar and …

l‐2‐Hydroxyglutaric (l‐2‐HG) aciduria is a rare inherited metabolic disease usually
observed in children. Patients present a very slowly progressive deterioration with cerebellar …

BACKGROUND AND OBJECTIVES: L-2-hydroxyglutaric aciduria is a neurometabolic
disorder with autosomal recessive mode of inheritance in which patients exhibit elevated L-2 …

L-2-hydroxyglutaric aciduria is a rare metabolic encephalopathy displaying a subcortical
leukoencephalopathy on MRI. Diagnosis rests on detection of an abnormal accumulation of …

We present clinical, biochemical and cranial magnetic resonance imaging data of six
pediatric patients with l-2-hydroxyglutaric aciduria. All the children have the same ethnic …