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

CblC/D defect combined with haemodynamically highly relevant VSD.

M Tomaske1, A Bosk, M K Heinemann

  • 1Department of Pediatrics I, University Hospital, Tübingen, Germany. Maren.Tomaske@med.uni-tuebingen.de

Journal of Inherited Metabolic Disease
|October 13, 2001
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

[Testing of practical surgical teaching at a distance-Experiences with a hybrid OSCE in surgery].

Chirurgie (Heidelberg, Germany)·2022
Same author

Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries.

Molecular genetics and metabolism·2021
Same author

An unexpected cause of bilateral periorbital oedema.

Clinical and experimental dermatology·2018
Same author

Hyponatraemia in Paediatric Bronchiolitis - a Harmful Complication not to be Ignored.

Klinische Padiatrie·2016
Same author

[Large Cardiac Fibroma in a 9-year-old Boy - Successful Surgical Resection in High Grade Ventricular Arrhythmias].

Klinische Padiatrie·2016
Same author

The challenges of managing coexistent disorders with phenylketonuria: 30 cases.

Molecular genetics and metabolism·2015

An infant with combined methylmalonic aciduria and homocystinuria (cblC/D defect) had a significant ventricular septal defect (VSD). Successful cardiac surgery was performed at 53 days old.

Area of Science:

  • Biochemistry
  • Pediatric Cardiology
  • Genetics

Background:

  • Combined methylmalonic aciduria and homocystinuria (cblC/D defect) is a rare metabolic disorder.
  • Congenital heart defects, such as ventricular septal defects (VSD), can occur in infants with metabolic disorders.
  • Early diagnosis and intervention are crucial for managing these complex conditions.

Observation:

  • A neonate presented with symptoms indicative of combined methylmalonic aciduria and homocystinuria (cblC/D defect).
  • The infant was also diagnosed with a significant ventricular septal defect (VSD).

Findings:

  • The infant with cblC/D defect underwent successful surgical repair of the VSD.
  • The cardiac surgery was performed at 53 days of age.

Related Experiment Videos

Implications:

  • This case highlights the importance of considering cardiac anomalies in infants with inherited metabolic disorders.
  • Successful surgical management of VSD in affected infants can lead to improved outcomes.
  • Further research into the interplay between metabolic disorders and congenital heart disease is warranted.