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Related Experiment Video

Updated: Jul 10, 2026

Video Imaging and Spatiotemporal Maps to Analyze Gastrointestinal Motility in Mice
07:41

Video Imaging and Spatiotemporal Maps to Analyze Gastrointestinal Motility in Mice

Published on: February 3, 2016

L-2-Hydroxyglutaric aciduria presenting with severe autistic features.

D I Zafeiriou1, A Ververi, G S Salomons

  • 11st Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece. jeff@med.auth.gr

Brain & Development
|November 6, 2007
PubMed
Summary

L-2-Hydroxyglutaric aciduria (L-2-HGA), a rare neurometabolic disorder, can present with severe autism. This case highlights autism as a potential feature of L-2-HGA, expanding its known phenotypic spectrum.

Related Experiment Videos

Last Updated: Jul 10, 2026

Video Imaging and Spatiotemporal Maps to Analyze Gastrointestinal Motility in Mice
07:41

Video Imaging and Spatiotemporal Maps to Analyze Gastrointestinal Motility in Mice

Published on: February 3, 2016

Area of Science:

  • Neurology
  • Metabolic Disorders
  • Genetics

Background:

  • L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare autosomal recessive neurometabolic disorder.
  • Characterized by psychomotor delay, ataxia, macrocephaly, and subcortical leucoencephalopathy.
  • The L2HGDH gene, encoding L-2-hydroxyglutarate dehydrogenase, was recently identified as the disease-causing gene.

Observation:

  • A 3-year-old boy with L-2-HGA presented with macrocephaly noted in utero.
  • Cranial MRI revealed diffuse subcortical encephalopathy with white matter signal changes.
  • Metabolic screening showed elevated L-2-HGA levels, and genetic analysis identified two missense mutations in L-2-HGDG.

Findings:

  • The patient exhibited mild motor and profound speech impairment.
  • From age 2, he developed severe autistic behaviors, including repetitive movements and social aloofness.
  • Autism has not previously been described in L-2-HGA patients.

Implications:

  • This case suggests autism may be part of the L-2-HGA phenotypic spectrum.
  • Further research is needed to understand the link between L-2-HGA and autism.
  • This finding may impact diagnostic approaches and therapeutic strategies for L-2-HGA.