Krabbe Leukodystrophy (also called globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare genetic disorder of the nervous system. A defect or mutation of the GALC gene causes Krabbes Disease. The gene mutation affects an enzyme called 'galactoscerebrosidase'. People with this gene defect do not make enough of this particular enzyme. The body needs this enzyme to make myelin, the material that surrounds and protects nerve fibres. Without it, myelin breaks down, brain cells die and nerves in the brain that send signals to all areas of the body do not work.

Krabbes Disease is part of a group of disorders known as leukodystrophies. Leukodystrophies are a group of rare genetic disorders that affect the nervous system by disrupting the growth or maintenance of the myelin sheath that insulates the nerve cells. The loss of myelin is called 'Demyelination'. The protective myelin sheath can be likened to that of the protective insulation that surrounds an electric wire.

Krabbes Disease is inherited in what is called an autosomal recessive pattern. To get this disease each of your parents passes on a copy of the faulty GALC gene. Although both parents each carry a copy of the mutated gene, they typically do not show any signs or symptoms of the condition.

Krabbes Disease is very rare condition which means that statistically there is only one case in every 100,000 births. (It can be more frequent in people of some Arab origins). However approximately 1 in 150 of us carries the faulty GALC gene.

The disorder can appear soon after birth in the ‘Infantile’ form or in older children or adults in the 'Late Onset' form. Infantile Krabbe, if untreated, is generally fatal before the age of 2. Babies with Krabbes Disease generally experience feeding difficulties and suffer development delay. As the disease progresses symptoms may include limb stiffness, seizures, slowing of mental and motor development, deafness and blindness.

What is Leukodystrophy?