Journal of Academic Research in Medicine
Case Report
A New Mutation in Diagnosis of Wolman Disease: Case Report

A New Mutation in Diagnosis of Wolman Disease: Case Report

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Namık Kemal Üniversitesi, Sağlık Hizmetleri Meslek Yüksekokulu, Tıbbi Laboratuvar Teknikleri, Tekirdağ, Türkiye

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İstanbul Üniversitesi Cerrahpaşa Tıp Fakültesi, Radyoloji Kliniği, İstanbul, Türkiye

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Sağlık Bilimleri Üniversitesi Şişli Hamidiye Etfal Eğitim ve Araştırma Hastanesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Çocuk Metabolizma Kliniği, İstanbul, Türkiye

JAREM 2019; 9: 150-152
DOI: 10.5152/jarem.2019.2221
Read: 148 Downloads: 15 Published: 22 July 2019

Abstract

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.

Cite this article as: Cansever MŞ, Aslan M, Zübarioğlu T. A New Mutation in Diagnosis of Wolman Disease: Case Report. JAREM 2019; 9(3): 150-2.

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ISSN2146-6505 EISSN 2147-1894
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