Sphingomyelinase Deficiency

Sphingomyelinase deficiency is a rare inherited disorder in which an enzyme needed to process certain fats is missing or reduced, causing them to build up in different organs; it is related to Niemann-Pick disease.

How can it show up? Depending on the type, it can be associated with enlargement of the liver and spleen, growth difficulties, and, in some variants, involvement of the nervous system.

Origin: It is passed from parents to children and depends on alterations in the genes that give instructions to produce this enzyme.

Who evaluates it? The geneticist and the endocrinologist take part in its study and follow-up. When an inherited metabolic disease is suspected, a specialized evaluation that guides the family is advisable.