Galactosylceramidase Deficiency

Galactosylceramidase deficiency is an inherited disorder of metabolism in which an enzyme responsible for processing certain fats that protect the nerve fibers is missing or does not work well, which affects the nervous system, especially in early childhood.

How it manifests: It is usually noticed in babies with irritability, muscle stiffness, difficulty feeding and delay or loss of acquired skills.

Origin: It is passed from parents to children through a genetic alteration, so there may be a family history.

Who evaluates it? The pediatrician is the first point of contact to evaluate a child with these signs and guide the specialized workup. When there are signs of neurological development that is not progressing as expected, it is advisable to seek a professional evaluation without delay.