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

Primary carnitine deficiency.

H R Scholte1, R Rodrigues Pereira, P C de Jonge

  • 1Department of Biochemistry I, Erasmus University, Rotterdam, The Netherlands.

Journal of Clinical Chemistry and Clinical Biochemistry. Zeitschrift Fur Klinische Chemie Und Klinische Biochemie
|May 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

Clinical predictors of pseudoprogression in glioblastoma: a retrospective cohort analysis.

Journal of neuro-oncology·2025
Same author

[Series: Mental disorders in a dental practice. ADHD in children and adults].

Nederlands tijdschrift voor tandheelkunde·2021
Same author

Streptomycin Treatment of Meningeal, Miliary and Pulmonary Tuberculosis.

Edinburgh medical journal·2018
Same author

Tranexamic acid in life-threatening military injury and the associated risk of infective complications.

The British journal of surgery·2016
Same author

2nd BASHH Oxford Diagnostics Course, November 2015.

International journal of STD & AIDS·2016
Same author

Mental health nurse prescribing: the emerging impact.

Journal of psychiatric and mental health nursing·2015
Same journal

Determination of amniotic fluid acetylcholinesterase activity in the antenatal diagnosis of foetal malformations: the first ten years.

Journal of clinical chemistry and clinical biochemistry. Zeitschrift fur klinische Chemie und klinische Biochemie·1990
Same journal

Antibodies as a source of analytical errors.

Journal of clinical chemistry and clinical biochemistry. Zeitschrift fur klinische Chemie und klinische Biochemie·1990
Same journal

Determination of methotrexate in serum: the aca MTHO immunoassay and HPLC compared.

Journal of clinical chemistry and clinical biochemistry. Zeitschrift fur klinische Chemie und klinische Biochemie·1990
Same journal

Improved sample and reagent pipetting with the MINILAB.

Journal of clinical chemistry and clinical biochemistry. Zeitschrift fur klinische Chemie und klinische Biochemie·1990
Same journal

Enzyme immunoassay of testosterone using nitrocellulose discs as the solid phase.

Journal of clinical chemistry and clinical biochemistry. Zeitschrift fur klinische Chemie und klinische Biochemie·1990
Same journal

Interference of immunoglobulins in the radioimmunoassay of human beta-endorphin.

Journal of clinical chemistry and clinical biochemistry. Zeitschrift fur klinische Chemie und klinische Biochemie·1990
See all related articles

Primary carnitine deficiency, caused by genetic defects in carnitine transport, can lead to severe heart and liver conditions. Carnitine supplementation may improve symptoms, but transport issues in muscles and other tissues require further investigation.

Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Carnitine deficiency decreases intracellular carnitine, leading to acyl-CoA ester accumulation and impaired mitochondrial acyl-transport.
  • This impairment inhibits long-chain fatty acid oxidation, potentially causing heart or liver failure and encephalopathy.
  • Genetic defects in carnitine transport, particularly in renal tubules, represent the most severe form of primary carnitine deficiency.

Purpose of the Study:

  • To investigate the underlying mechanisms of carnitine deficiency in a patient with cardiomyopathy.
  • To assess carnitine transport across different cellular barriers in the affected patient.
  • To evaluate the efficacy of carnitine supplementation in treating the patient's condition.

Main Methods:

Related Experiment Videos

  • Clinical assessment of a patient with cardiomyopathy and skeletal myopathy.
  • Analysis of carnitine transport in renal tubules, small intestinal epithelium, muscle tissue, and fibroblasts.
  • Monitoring patient response to carnitine supplementation.

    • Main Results:

    • The patient presented with cardiomyopathy and was successfully treated with carnitine supplementation.
    • Carnitine transport was found to be inhibited at the small intestinal epithelial brush border, but normal in fibroblasts.
    • Muscle carnitine levels increased post-supplementation but remained suboptimal, suggesting ongoing transport inhibition in muscle.

    Conclusions:

    • Primary carnitine deficiency can manifest with cardiac and hepatic involvement due to impaired carnitine transport.
    • Carnitine supplementation is a viable treatment, but residual transport defects may persist in certain tissues.
    • Further research is needed to fully elucidate the complex mechanisms of carnitine transport and its implications in primary carnitine deficiency.