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.

Keywords: Wolman disease, LIPA gene, lysosomal acid lipase