Abstract
Objective: Organic acidemias are intoxication-type inborn errors of the metabolism with multiple organ involvement.
Patients with organic acidemia usually present in the neonatal or infantile period with high anion gap metabolic acidosis
and hyperammonemia. The present study investigates the presence of congenital heart defects and secondary heart
diseases in patients with organic acidemia.
Material and Methods: Included in the study were 31 patients of whom 14 were diagnosed with methylmalonic
acidemia (MMA), 11 with propionic acidemia and six with isovaleric acidemia. The cardiac findings of all patients
included in the study were evaluated.
Results: Of the sample, 63.64% were identified with accompanying congenital heart disease, with the most common
diagnosis being propionic acidemia and the most common heart defects being atrial septal defects and mitral
regurgitation.
Conclusion: The accumulation of toxic intermediate metabolites due to enzyme deficiency is thought to be the main
mechanism behind the cardiac involvement noted in organic acidemias. In the presence of unexplained deterioration, the
potential for organic acidemia to accompany congenital heart disease should be kept in mind, and so it is important to
screen patients with organic acidemias by echocardiography.
Abstract
Amaç: Organik asidemiler, çoklu organ tutulumu ile seyreden ciddi kalıtsal metabolik hastalıklardır. Pek çok organik asidemi neonatal veya
infantil dönemde artmış anyon açıklığı, metabolik asidoz ve hiperamonyemi ile birlikte bulunur. Bu çalışmada; organik asidemi ile takipli
hastalarda konjenital kalp defektleri ile sekonder kalp hastalıklarının araştırılması amaçlandı.
Gereç ve Yöntemler: Çalışmaya 14’ü metilmalonik asidemi, 11’i propionik asidemi ve 6’sı izovalerik asidemi tanılı toplam 31 hasta dahil
edildi. Bu olguların kardiak bulguları değerlendirildi.
Bulgular: En sık propionik asidemi tanısı ile takipli hastalarda %63.6 oranında eşlik eden konjenital kalp hastalığı saptandı. Bunlar arasında
en sık görülen kalp anomalisi ise atriyal septal defekt ve mitral yetmezlikti.
Sonuç: Organik asidemilerde kardiyak tutulumun ana mekanizmasının enzim eksikliğine bağlı toksik ara metabolitlerin birikimi olduğu
düşünülmektedir. Klinikte açıklanamayan kötüleşme varlığında konjenital kalp hastalıklarına organik asideminin eşlik edebileceği akılda
tutulmalıdır. Bu nedenle organik asidemilerde ekokardiyografi ile tarama yapılması önemlidir.
Details
| Primary Language | English |
|---|---|
| Subjects | Clinical Sciences (Other) |
| Journal Section | ORIGINAL ARTICLES |
| Authors | |
| Early Pub Date | February 5, 2024 |
| Publication Date | May 13, 2024 |
| Submission Date | June 8, 2023 |
| Published in Issue | Year 2024 Volume: 18 Issue: 3 |
The publication language of Turkish Journal of Pediatric Disease is English.
Manuscripts submitted to the Turkish Journal of Pediatric Disease will go through a double-blind peer-review process. Each submission will be reviewed by at least two external, independent peer reviewers who are experts in the field, in order to ensure an unbiased evaluation process. The editorial board will invite an external and independent editor to manage the evaluation processes of manuscripts submitted by editors or by the editorial board members of the journal. The Editor in Chief is the final authority in the decision-making process for all submissions. Articles accepted for publication in the Turkish Journal of Pediatrics are put in the order of publication, with at least 10 original articles in each issue, taking into account the acceptance dates. If the articles sent to the reviewers for evaluation are assessed as a senior for publication by the reviewers, the section editor and the editor considering all aspects (originality, high scientific quality and citation potential), it receives publication priority in addition to the articles assigned for the next issue.
The aim of the Turkish Journal of Pediatrics is to publish high-quality original research articles that will contribute to the international literature in the field of general pediatric health and diseases and its sub-branches. It also publishes editorial opinions, letters to the editor, reviews, case reports, book reviews, comments on previously published articles, meeting and conference proceedings, announcements, and biography. In addition to the field of child health and diseases, the journal also includes articles prepared in fields such as surgery, dentistry, public health, nutrition and dietetics, social services, human genetics, basic sciences, psychology, psychiatry, educational sciences, sociology and nursing, provided that they are related to this field. can be published.