Abstract
Akçaağaç şurubu idrar hastalığı, valin, lösin, izolosin ve onların ilgili ketoasitlerinin vücut sıvılarında yüksek miktarda birikmesinin neden olduğu, nadir görülen, dallı zincirli aminoasitlerin katabolizma bozukluğudur. Toksik metabolik bileşenler lösin ve ketoaistlerdir. Lösin ve alfa ketoizokaproik asit seviyelerindeki akut yükselmeler, metabolik ensefalopati ve yaşamı tehdit eden beyin ödemine neden olur. Klinik, metabolik defektin şiddetine bağlı olarak değişir. Neonatal form, yaşamın ilk haftasında yaşamı tehdit eden hastalık olarak ortaya çıkar. İnfantil veya geç başlangıçlı formu, büyüme geriliği, gelişme geriliği ve diğer nörolojik bulgularla daha sinsi seyirlidir. Burada menenjit ve akut ensefalopatik kriz ile başvuran, akçaağaç şurubu idrar hastalığı olan 12 günlük hastayı sunduk.
References
- Strauss KA, Wardley B, Robinson D, Hendrickson C, Rider NL, Puffenberger EG, et al. Classical maple syrup urine disease and brain development: Principles of management and formula design. Mol Genet Metab 2010;99:333-45.
Abstract
Maple syrup urine disease is a rare disorder of the catabolism of branched chain amino acids causing elevated quantities of leucine, isoleucine and valine and their respective ketoacids to accumulate in body fluids. The toxic metabolic components are leucine and the ketoacids. Acute elevations of leucine and alpha-ketoisocaproic acid cause metabolic encephalopathy and life-threatening brain edema. The clinical picture varies according to the severity of the metabolic defect. The neonatal form presents in the first week of life with life-threatening illness. The infantile or late-onset form has a more insidious presentation with failure to thrive, developmental delay, and other neurological features. Herein we report a 12-day-old patient with maple syrup urine disease who presented with acute encephalopathic crisis and meningitis
References
- Strauss KA, Wardley B, Robinson D, Hendrickson C, Rider NL, Puffenberger EG, et al. Classical maple syrup urine disease and brain development: Principles of management and formula design. Mol Genet Metab 2010;99:333-45.
Details
| Other ID | JA43UZ68DM |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | December 1, 2015 |
| Submission Date | December 1, 2015 |
| Published in Issue | Year 2015 Volume: 9 Issue: 4 |
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.