Wolman Hastaliginda Yeni Bir Mutasyon: Olgu Sunumu/A New Mutation in Diagnosis of Wolman Disease: Case Report

Citation metadata

Authors: Mehmet Serif Cansever, Mine Aslan and Tanyel Zubarioglu
Date: Dec. 2019
From: Journal of Academic Research in Medicine(Vol. 9, Issue 3)
Publisher: Galenos Yayinevi Tic. Ltd.
Document Type: Clinical report
Length: 1,509 words

Main content

Abstract :

Wolman hastaligi kolesterol ester ve trigliseridlerin hidrolizinden sorumlu lizozomal asit lipaz (LAL) enzim aktivitesindeki kayip sonucunda ortaya çikar. Kusma, ishal, azalmis tarti alimi, hepatomegali ile karakterize olup erken süt çocuklugu döneminde ölümle sonuçlanir. Hastaligin kesin tanisi LIPA geninin moleküler analizi ile konulur. LIPA genine ait nokta mutasyonlar, insersiyon ve delesyonlar gibi farkli mutasyonlar bildirilmis olup, Wolman hastaliginda çerçeve kayma mutasyonlari nadiren görülmektedir. Bu yazida LIPA gen analizi ile Wolman hastaliginin kesin tanisi konulan 18 günlük bir kiz hasta sunulmustur. Moleküler analiz sonucunda literatürde daha önce bildirilmemis bir çerçeve kayma mutasyonu saptanmistir. Anahtar kelimeler: Wolman hastaligi, LIPA geni, Lizozomal asit lipaz Wolman disease (WD) is caused by the complete loss of lysosomal acid lipase (LAL) activity that is essential for hydrolysis of cholesterol esters and triglycerides. It presents with vomiting, diarrhea, poor weight gain, and hepatomegaly subsequently leading to death in infancy. Definite diagnosis is based on genetic confirmation by the LIPA gene sequencing. Several types of mutations, including point mutations, insertions, and deletions, have been reported in LIPA gene. Frameshift mutations are not frequently showed in WD. Here, an 18-day-old female patient in whom the definite diagnosis was made by the LIPA gene sequencing is reported. Genetic analysis resulted in a novel frameshift mutation that has not been reported before. Keywords: Wolman disease, LIPA gene, lysosomal acid lipase

Source Citation

Source Citation
Cansever, Mehmet Serif, et al. "Wolman Hastaliginda Yeni Bir Mutasyon: Olgu Sunumu/A New Mutation in Diagnosis of Wolman Disease: Case Report." Journal of Academic Research in Medicine, vol. 9, no. 3, Dec. 2019, pp. 150+. Accessed 27 Oct. 2021.
  

Gale Document Number: GALE|A581865892