A New Mutation in Diagnosis of Wolman Disease: Case Report

Cansever M. S., Aslan M., Zubarioglu T.

JOURNAL OF ACADEMIC RESEARCH IN MEDICINE-JAREM, cilt.9, sa.3, ss.150-152, 2019 (ESCI, TRDizin) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 9 Sayı: 3
  • Basım Tarihi: 2019
  • Doi Numarası: 10.5152/jarem.2019.2221
  • Dergi Adı: JOURNAL OF ACADEMIC RESEARCH IN MEDICINE-JAREM
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.150-152
  • Anahtar Kelimeler: Wolman disease, LIPA gene, lysosomal acid lipase, LYSOSOMAL ACID LIPASE, GENE
  • İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet

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.