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

Transient neonatal hyperglycinemia.

R Schiffmann1, E M Kaye, J K Willis

  • 1Division of Pediatric Neurology, Floating Hospital for Infants and Children, Tufts Medical School, Boston, MA 02111.

Annals of Neurology
|February 1, 1989
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

Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus.

Molecular genetics and metabolism·2021
Same author

<i>GJA1</i> Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination.

AJNR. American journal of neuroradiology·2019
Same author

GFAP mutations, age at onset, and clinical subtypes in Alexander disease.

Neurology·2011
Same author

Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases.

Neurology·2010
Same author

Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data.

Lancet (London, England)·2009
Same author

Management of neuronopathic Gaucher disease: revised recommendations.

Journal of inherited metabolic disease·2009
Same journal

Five Issues of Artificial Intelligence in Science: Sailing the Ship of Theseus.

Annals of neurology·2026
Same journal

Reply to "Clinical Value of Aneurysm Wall Enhancement in Unruptured Intracranial Aneurysm".

Annals of neurology·2026
Same journal

Clinical Value of Aneurysm Wall Enhancement in Unruptured Intracranial Aneurysm.

Annals of neurology·2026
Same journal

Imaging of Neurovascular Compression in Thoracic Outlet Syndrome.

Annals of neurology·2026
Same journal

Reply to "Methodological Challenges in Interpreting SAA-Defined Imaging Subgroups in Parkinson's Disease".

Annals of neurology·2026
Same journal

Methodological Challenges in Interpreting SAA-Defined Imaging Subgroups in Parkinson's Disease.

Annals of neurology·2026
See all related articles

Nonketotic hyperglycinemia can cause neonatal seizures but may resolve by 6 weeks of age. Normalizing cerebrospinal fluid glycine levels effectively treated seizures in infants with this condition.

Area of Science:

  • Biochemistry
  • Neonatology
  • Neurology

Background:

  • Neonatal seizures represent a critical clinical challenge in pediatrics.
  • Nonketotic hyperglycinemia (NKH) is a rare metabolic disorder.
  • Understanding the link between metabolic derangements and neurological symptoms is crucial.

Observation:

  • Two infants presented with neonatal seizures and were diagnosed with nonketotic hyperglycinemia.
  • Hyperglycinemia in both patients resolved spontaneously around 6 weeks of age.
  • Cerebrospinal fluid glycine levels were monitored throughout the study.

Findings:

  • Seizures completely resolved in one patient and significantly improved in the other after cerebrospinal fluid glycine normalization.
  • The resolution of hyperglycinemia correlated with clinical improvement of seizure activity.

Related Experiment Videos

  • This suggests a direct role of glycine metabolism in neonatal seizures.

    • Implications:

    • Nonketotic hyperglycinemia should be considered in the differential diagnosis of neonatal seizures.
    • Therapeutic strategies targeting glycine metabolism may offer a novel approach to managing neonatal seizures.
    • Further research into the mechanisms of NKH is warranted to optimize patient outcomes.