Definition
Niemann-Pick disease is a lysosomal storage disease resulting from sphingomyelinase enzyme deficiency.
Symptoms
- Liver and spleen enlargement
- Neurological decline
- Developmental delay
- Cherry red macula
Reasons
SMPD1 gene mutation.
Diagnosis
Enzyme activity, genetic testing.
Treatment
Symptomatic treatment.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of respiratory failure, emergency services should be consulted.
This page is for general information purposes only.