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

[Carnitine deficiency syndrome. Two cases].

R Meroni1, R Tartara, A M Tambussi

  • 1Divisione Pediatrica Mariani, Ospedale Niguarda Ca' Granda, Milano.

Minerva Pediatrica
|July 1, 1991
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

Direct access in physical therapy: a systematic review.

La Clinica terapeutica·2018
Same author

[EMG and forces during manoeuvring of ceiling-based and floor-based patient transfer devices].

Giornale italiano di medicina del lavoro ed ergonomia·2013
Same author

Psychiatric disorders in patients suffering from an acute cerebrovascular accident or traumatic injury, and their effects on rehabilitation: an observational study.

European journal of physical and rehabilitation medicine·2012
Same author

[Ageing and work: technical standards].

La Medicina del lavoro·2011
Same author

Magnetic resonance imaging in the preoperative assessment of Mayer-Rokitansky-Kuster-Hauser syndrome.

La Radiologia medica·2009
Same author

[Low back pain, movement impairement syndromes classification].

Giornale italiano di medicina del lavoro ed ergonomia·2008

Carnitine deficiency syndrome is challenging to diagnose due to its rarity and varied presentation. This study highlights two cases, one diagnosed with primary carnitine deficiency and another with secondary deficiency leading to infant death.

Area of Science:

  • Biochemistry
  • Pediatrics
  • Genetics

Background:

  • Carnitine deficiency syndrome (CDS) presents with significant biochemical and clinical heterogeneity, complicating diagnosis, especially in the absence of prior disease episodes.
  • Early and accurate diagnosis of CDS is crucial for timely intervention and improved patient outcomes.

Observation:

  • The study details two pediatric cases of carnitine deficiency.
  • Case 1: A 2-year-old child diagnosed with primary systemic carnitine deficiency through specific tests.
  • Case 2: A 3-month-old infant with presumed metabolic disease and secondary carnitine deficiency, who experienced sudden death.

Findings:

  • The cases illustrate the diverse clinical manifestations of carnitine deficiency, ranging from a diagnosable systemic form to a rapidly fatal presentation.

Related Experiment Videos

  • Comparison of the two cases reveals key similarities and differences in their biochemical profiles and clinical trajectories.

    • Implications:

    • These cases underscore the diagnostic challenges posed by carnitine deficiency syndrome and the importance of considering metabolic etiologies in unexplained infant deaths.
    • Further research into the heterogeneity of CDS is warranted to improve diagnostic strategies and therapeutic approaches for affected children.