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

Sialic acid storage disease.

P D Cameron1, V Dubowitz, G T Besley

  • 1Hammersmith Hospital, London.

Archives of Disease in Childhood
|March 1, 1990
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

Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2010
Same author

The natural history of Niemann-Pick disease type C in the UK.

Journal of inherited metabolic disease·2006
Same author

Orthodeoxia--an uncommon presentation following bilateral thoracic sympathectomy.

Anaesthesia and intensive care·2003
Same author

Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.

American journal of human genetics·2001
Same author

Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

American journal of human genetics·2001
Same author

Trifunctional protein deficiency: three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation.

Journal of inherited metabolic disease·2001
Same journal

Diagnostic accuracy study assessing the ability of paediatric asthma scores to predict admission following initial emergency department bronchodilator therapy: a Clinical Asthma Scoring systems in Paediatric Emergency (CASPER) study.

Archives of disease in childhood·2026
Same journal

Artificial intelligence for child health: current capabilities and the next frontier.

Archives of disease in childhood·2026
Same journal

Troubled origins and lasting impact of the first insulin injection.

Archives of disease in childhood·2026
Same journal

Paediatric readiness assessment tools in emergency care: a scoping review.

Archives of disease in childhood·2026
Same journal

Building a paediatric workforce to deliver the NHS prevention agenda: time for paediatric public health medicine?

Archives of disease in childhood·2026
Same journal

Impact of antenatal biological response modifying drugs on infant infection risk and vaccination rates: a national cohort study.

Archives of disease in childhood·2026
See all related articles

A rare genetic disorder caused elevated free sialic acid levels in a baby girl, leading to severe health issues and early death. This highlights potential lysosomal defects in sialic acid metabolism.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Sialic acids are crucial components of glycoproteins and glycolipids involved in cellular functions.
  • Lysosomal storage disorders can arise from defects in the breakdown of cellular components.

Observation:

  • A 13-month-old infant presented with coarse facial features, hepatosplenomegaly, and developmental delay.
  • Elevated urinary and fibroblast free sialic acid concentrations were detected in the patient.

Findings:

  • The patient's clinical presentation and biochemical findings suggest a novel metabolic disorder.
  • Impaired release of sialic acid from lysosomes is hypothesized as the underlying biochemical defect.

Implications:

Related Experiment Videos

  • This case underscores the importance of investigating sialic acid metabolism in neurodevelopmental disorders.
  • Further research into lysosomal sialic acid transport and metabolism is warranted.
  • Early diagnosis and understanding of such disorders are critical for potential therapeutic strategies.