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.
Specialties that treat sphingomyelinase deficiency
Treatment by city
Doctors specialized in sphingomyelinase deficiency
Dr. Ronny Kershenovich Sefchovich
Dr. Mauricio René Murillo Vilches
Dr. Jorge Ramírez Zenteno
Dr. Alejandro Gaviño Vergara
Dr. Etzalli Pamela Linares Chávez
Dr. Moisés Ó. Fiesco Roa
Dr. Aidee Gómez Acosta
Dr. Luis Leonardo Flores Lagunes
Dr. Federico Osorio Antonio
Dr. Rosa Angelica Rosales de Avila
Dr. Leonardo Javier Mejía Marín
Dr. Pedro Luis Hernández Lima
Dr. María Dolores Hernández Almaguer
Dr. Margarita Moreno Gardea
Dr. J Rubén Ortiz Saldaña
Dr. Montserrat Rebeca Staeps Gordoa
Dr. Ricardo Juan Garcia Cavazos
Dr. Alejandra Nava Tapia
Dr. Miguel Rodriguez Morales
Dr. Vianney Cortés González
Frequently asked questions
What is 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.
Which doctor treats sphingomyelinase deficiency?
Sphingomyelinase Deficiency is usually treated by specialists in geneticist, endocrinologist.