Abetalipoproteinemia

Abetalipoproteinemia is a rare genetic disorder in which the body cannot properly absorb or transport fats and certain fat-soluble vitamins, due to the lack of some proteins that move them through the blood.

Frequent symptoms: It usually appears in early infancy with greasy-looking diarrhea, poor weight gain, and growth difficulties. Over time, problems with vision, balance, and the peripheral nerves may be added.

Common causes: It has a hereditary origin, linked to an alteration in the genes that regulate how the body handles lipids, so it may occur in more than one member of the family.

Which specialist treats it? Because it appears at an early age, the pediatrician is the one who guides the initial care, follows up on the child's development, and coordinates the necessary studies. If you notice these signs in your child, the most sensible thing is to raise it in a consultation for a detailed evaluation.