Aspartoacylase Deficiency

Aspartoacylase deficiency is a rare genetic disorder in which this enzyme is missing or does not work properly, which causes the buildup of a substance that damages the white matter of the brain. It is classified among the neurological diseases of hereditary origin.

How it presents: It is usually detected in the first months of life with developmental delay, low muscle tone, difficulty holding up the head, and an increase in head circumference.

Why it happens: It is inherited from both parents who carry the genetic alteration; it is not contagious and does not depend on habits.

Which specialist handles it? The neurologist and the pediatrician are the ones who assess and follow up these cases, frequently with support from genetics. If a baby shows striking developmental delays, an early professional evaluation helps guide the appropriate support.