A New Mutation in Diagnosis of Wolman Disease: Case Report
Yükleniyor...
Dosyalar
Tarih
2019
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Aves
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
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.
Açıklama
Anahtar Kelimeler
Wolman disease, LIPA gene, lysosomal acid lipase, Lysosomal Acid Lipase, Gene
Kaynak
Journal of Academic Research in Medicine-Jarem
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
9
Sayı
3
