Definition
Wolman disease is a lethal lysosomal storage disease characterized by severe hepatosplenomegaly and adrenal calcification, resulting from acid lipase enzyme deficiency.
Symptoms
- Hepatosplenomegaly
- Adrenal calcification
- Malabsorption
- Developmental delay
Reasons
LIPA gene mutation.
Diagnosis
Enzyme activity, genetic testing.
Treatment
Palliative care.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of liver failure, emergency services should be consulted.
This page is for general information purposes only.