Krabbe Disease


Krabbe Disease This one is odd. We have seen such a wide spectrum of cases with this diagnosis that one wonders if the details are as worked out as the literature would have you believe. The defect is in galactosylceramidase I, an enzyme which removes the sugar called galactose from galactosylsphingosine. Look at the Lipids and Membranes sections to get a feel for how utterly basic to cell membrane function these substances are. The differing tweaks of similar phospholipids - tall oil  molecules wearing a water seeking cap.

In the case of Krabbe Disease, the defect is even more damaging than an absence of one of many variations on a membrane oil. The defect disallows a specific substance (called by many names including psychosine) to build up. That substance is cell toxic and causes cells to die.

Irritability, sustained muscle tone in the first year of life are typical. But there are late diagnoses as well. Fevers without apparent cause are also seen. We have seen children with the diagnostic enzyme defect who are relatively well save for some 'heel cord' contracture similar to mild spastic diplegia. Perhaps there are mixes or percentage of involved cell population issues. The general experience is usually far more serious.

There has been some movement in treatment via bone marrow and cord blood transplantation. Too early to say how practical.