Galactocerebrosidase Deficiency

Because of its impact on the nervous system, galactosylceramidase deficiency is studied by the neurologist together with the pediatrician, and usually requires support from genetics. It is an uncommon hereditary disease in which the lack of this enzyme affects myelin, the covering that protects the nerve fibers.

What does it involve? Because certain fats in the nervous system are not broken down, the myelin of the brain and nerves is altered, which affects their function.

Signs that may appear: Irritability, muscle stiffness, feeding difficulties, delay or loss of acquired skills, and movement problems, with an onset that varies from case to case.

When to seek care? In the case of progressive neurological changes in a child, a professional evaluation makes it possible to characterize the condition and plan the most suitable follow-up.