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

CDG-Id in two siblings with partially different phenotypes.

Christian Kranz1, Liangwu Sun, Erik A Eklund

  • 1Glycobiology and Carbohydrate Chemistry Program, The Burnham Institute for Medical Research, 10901 N. Torrey Pines Road, La Jolla, CA 92037, USA.

American Journal of Medical Genetics. Part A
|June 7, 2007
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

European expert recommendations for comprehensive pre-treatment, treatment-phase and post-treatment care of patients with metachromatic leukodystrophy treated with autologous haematopoietic stem and progenitor cell gene therapy.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026
Same author

ALG14 Variants Contribute to a Congenital Disorder of Glycosylation Characterized by Congenital Myasthenia and Epilepsy.

HGG advances·2026
Same author

Thoracoabdominal Asynchrony in Healthy Children.

Journal of sleep research·2026
Same author

MRPS22 variants alter mitochondrial ribosome assembly in patients with leukodystrophy, movement disorder and intellectual impairment.

Human molecular genetics·2026
Same author

Patient iPSC-Derived Cartilage Organoids Reveal Defective ECM Deposition and Altered Chondrogenic Trajectory in Saul-Wilson Syndrome.

bioRxiv : the preprint server for biology·2026
Same author

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.

Science advances·2026

Congenital disorder of glycosylation (CDG) type Id, caused by ALG3 gene mutations, leads to severe developmental delays and failure to thrive. Correcting the ALG3 gene defect in patients offers therapeutic potential for this rare genetic disorder.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Congenital disorders of glycosylation (CDG) are a group of rare inherited metabolic diseases.
  • CDG type Id is specifically linked to defects in the ALG3 gene, crucial for N-glycan synthesis.

Observation:

  • Two siblings presented with severe global developmental delay, failure to thrive, seizures, microcephaly, axial hypotonia, and disaccharidase deficiency.
  • Clinical manifestations varied, with one sibling experiencing more severe digestive issues and the other more pronounced neurological impairment.

Findings:

  • Both siblings were compound heterozygous for a novel mutation and a known mutation in the ALG3 gene.
  • These mutations resulted in the synthesis of a severely truncated oligosaccharide precursor for N-glycans.

Related Experiment Videos

  • Functional studies demonstrated that introducing a normal ALG3 cDNA corrected the observed defect.

    • Implications:

    • This study highlights the critical role of the ALG3 gene in normal development and glycosylation.
    • Congenital disorder of glycosylation (CDG) type Id should be considered in the differential diagnosis of infants presenting with severe seizures and failure to thrive.
    • Gene therapy targeting the ALG3 gene holds promise for treating CDG type Id.