Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

D-2-hydroxyglutaric aciduria

W L Nyhan1, G D Shelton, C Jakobs

  • 1Department of Pediatrics, University of California San Diego, La Jolla, USA.

Journal of Child Neurology
|March 1, 1995
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Cyclic Vomiting Syndrome in Patients Affected by Jansen-de Vries Syndrome: Results From an International Survey.

American journal of medical genetics. Part A·2024
Same author

Retraction Note: Therapeutic potential of targeting IRES-dependent c-myc translation in multiple myeloma cells during ER stress.

Oncogene·2023
Same author

Lateral segmental mandibulectomy reconstruction with bridging reconstruction plate and anterolateral thigh free flap: a case series of 30 consecutive patients.

The British journal of oral & maxillofacial surgery·2021
Same author

A technique for retrieving misplaced intramedullary metalwork during total knee replacement.

Annals of the Royal College of Surgeons of England·2019
Same author

mTORC2/AKT/HSF1/HuR constitute a feed-forward loop regulating Rictor expression and tumor growth in glioblastoma.

Oncogene·2017
Same author

Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

Clinical genetics·2017
Same journal

Neuromuscular Symptoms of <i>ORAI1</i>-Related Immunodeficiency.

Journal of child neurology·2026
Same journal

Symptoms of Obsessive-Compulsive Disorder, Attention-Deficit/Hyperactivity Disorder, and Autism Spectrum Disorder in Children and Adolescents Attending a Headache Outpatient Clinic and School-Based Controls.

Journal of child neurology·2026
Same journal

Acute Encephalopathy From Central Nervous System Hemophagocytic Lymphohistiocytosis (CNS HLH) in X-Linked Lymphoproliferative Disease Type 1 (XLP-1).

Journal of child neurology·2026
Same journal

The Cost of Fear for Pediatric Neurologic Care.

Journal of child neurology·2026
Same journal

Hospitalisation Experiences of Children with Neurological Illness: A Qualitative Exploration.

Journal of child neurology·2026
Same journal

The Burden of Idiopathic Developmental Intellectual Disability Attributed to Lead Exposure in Asian Children and Adolescents, 1990-2021: Trends, Inequalities, and Future Projections for the Global Burden of Disease Study 2021.

Journal of child neurology·2026
See all related articles

D-2-hydroxyglutaric aciduria, a rare condition, presents distinct neurological symptoms compared to the L-form. This study details the phenotype in three patients and an animal model, highlighting key clinical features.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Hydroxyglutaric aciduria is a metabolic disorder.
  • Gas chromatographic-mass spectrometric analysis is used for detection.
  • D and L forms of hydroxyglutaric acid exist, with differing clinical presentations.

Observation:

  • Patients accumulating the D-form of hydroxyglutaric acid exhibit a distinct phenotype.
  • Three patients and an animal model with D-2-hydroxyglutaric aciduria were studied.
  • Clinical manifestations varied among patients, even within families.

Findings:

  • D-2-hydroxyglutaric aciduria is associated with mental retardation, macrocephaly, hypotonia, seizures, and involuntary movements.
  • The phenotype of D-2-hydroxyglutaric aciduria is notably different from that of L-2-hydroxyglutaric aciduria.

Related Experiment Videos

  • Neurologic and systemic manifestations showed considerable variability.

    • Implications:

    • Understanding the D-form phenotype aids in diagnosis and management.
    • Further research into D-2-hydroxyglutaric aciduria can elucidate pathogenic mechanisms.
    • This study contributes to the differential diagnosis of neurometabolic disorders.