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

Sialuria: a second case.

B Wilcken1, N Don, R Greenaway

  • 1Oliver Latham Laboratory, NSW Department of Health, Sydney, Australia.

Journal of Inherited Metabolic Disease
|January 1, 1987
PubMed
Summary

A novel case of sialuria, a rare metabolic disorder, was identified in a neonate presenting with hepatosplenomegaly and developmental delay. The patient exhibited massive urinary excretion of free sialic acid, distinct from other known sialic acid storage diseases.

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

Validating the PRETREAT Score: Risk Stratification Following Liver Transplantation for Perihilar Cholangiocarcinoma.

Transplantation proceedings·2026
Same author

Early resident perceptions of clinical readiness in Italy: associations with demographic and educational factors.

BMC medical education·2026
Same author

Readability, quality and accuracy of generative artificial intelligence chatbots for commonly asked questions about labor epidurals: a comparison of ChatGPT and Bard.

International journal of obstetric anesthesia·2025
Same author

Streamlining Global Germplasm Exchange: Integrating Scientific Rigor and Common Sense to Exclude Phantom Agents from Regulation.

Plant disease·2025
Same author

An Exploration of the Peri-Diagnostic Experiences of Lesbian, Gay and Bisexual People With Dementia Using the Candidacy Framework.

International journal of geriatric psychiatry·2024
Same author

The impact of urgency of umbilical hernia repair on adverse outcomes in patients with cirrhosis: a population-based cohort study from England.

Hernia : the journal of hernias and abdominal wall surgery·2023

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Sialic acid storage disorders (SASDs) are a group of rare inherited metabolic diseases.
  • These disorders are characterized by the accumulation of free sialic acid in various tissues and organs.
  • Distinguishing between different SASDs is crucial for accurate diagnosis and management.

Observation:

  • A case of sialuria is presented in a female infant.
  • The patient exhibited hepatosplenomegaly at birth and moderate developmental delay by age two.
  • Massive urinary excretion of free sialic acid (N-acetylneuraminic acid) was detected.

Findings:

  • The clinical presentation included hepatosplenomegaly and developmental delay.
  • Biochemical analysis revealed a significant elevation of free sialic acid in urine.

Related Experiment Videos

  • Ultramicroscopical examination showed distinct features differentiating this case from Salla disease and infantile sialic acid storage disorder.

    • Implications:

    • This case expands the spectrum of known sialic acid storage disorders.
    • Highlights the importance of biochemical and ultrastructural analysis for diagnosing rare metabolic conditions.
    • Further research into the specific genetic and molecular basis of this sialuria variant is warranted.