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

Inborn errors presenting with liver dysfunction.

Peter T Clayton1

  • 1Biochemistry Endocrinology and Metabolism Unit, Institute of Child Health, University College London and Great Ormond Street Hospital for Children, London, UK. p.clayton@ich.ucl.ac.uk

Seminars in Neonatology : SN
|June 19, 2002
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

Acquired vitamin B6 deficiency in POEMS: a marker of disease activity and cause of neuropathy?

Journal of neurology, neurosurgery, and psychiatry·2026
Same author

Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy.

JIMD reports·2026
Same author

Case report: The first report of a family with sitosterolemia in the Polish population.

Journal of clinical lipidology·2026
Same author

Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis.

Journal of inherited metabolic disease·2025
Same author

Effectiveness of Pyridoxal-5'-Phosphate in PNPO Deficiency: A Systematic Review.

Journal of inherited metabolic disease·2025
Same author

Use of lysine reduction therapies in patients with pyridoxine dependent epilepsy due to Antiquitin deficiency - A cohort study.

Molecular genetics and metabolism·2025
Same journal

Role of micro-organisms in necrotizing enterocolitis.

Seminars in neonatology : SN·2020
Same journal

The epidemiology and pathogenesis of necrotizing enterocolitis.

Seminars in neonatology : SN·2020
Same journal

Regionalized perinatal education.

Seminars in neonatology : SN·2005
Same journal

Regional quality assessment in perinatal care.

Seminars in neonatology : SN·2005
Same journal

Regionalized long-term follow-up.

Seminars in neonatology : SN·2005
Same journal

Regionalized neonatal emergency transport.

Seminars in neonatology : SN·2005
See all related articles

Inborn errors of metabolism in newborns can cause liver dysfunction signs. Early diagnosis of these metabolic disorders is crucial for effective treatment and future prenatal diagnosis.

Area of Science:

  • Biochemistry
  • Neonatology
  • Genetics

Background:

  • Inborn errors of metabolism (IEMs) present with diverse signs of liver dysfunction in neonates.
  • Neonatal encephalopathy in IEMs often indicates specific metabolic issues, unlike in older patients where it suggests liver failure.

Purpose of the Study:

  • To outline key neonatal presentations of IEMs.
  • To guide differential diagnosis and diagnostic testing for these conditions.
  • To emphasize the importance of timely diagnosis for effective management.

Main Methods:

  • Focus on five distinct neonatal presentations: unconjugated hyperbilirubinaemia, cholestatic jaundice, severe liver dysfunction, hepatomegaly with hypotonia, and hepatosplenomegaly.
  • Listing associated IEMs with clinical features aiding differential diagnosis.

Related Experiment Videos

  • Identifying confirmatory diagnostic tests.

    • Main Results:

    • Specific IEMs are associated with each of the five neonatal presentations.
    • Clinical features and diagnostic tests are provided for differential diagnosis.
    • Effective treatments exist for some IEMs, such as dietary changes.

    Conclusions:

    • Prompt diagnosis of IEMs in neonates is critical for initiating life-saving treatments.
    • Prenatal diagnosis is often possible for future pregnancies, even when treatment is limited.
    • Understanding these presentations improves neonatal care and outcomes for metabolic disorders.