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, ss.150-152, 2019 (ESCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 9 Konu: 3
  • Basım Tarihi: 2019
  • Doi Numarası: 10.5152/jarem.2019.2221
  • Dergi Adı: JOURNAL OF ACADEMIC RESEARCH IN MEDICINE-JAREM
  • Sayfa Sayıları: ss.150-152

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.