Krabbe, Morquio and Sanfilippo: same battle

Krabbe disease: the importance of early diagnosis

Krabbe's disease, the patient has a deficiency of an important enzyme that produces myelin. Myelin covers the neurons and speeds up communication between them. Generally the first symptoms appear during the first months of life of the baby. The infant is agitated and can hardly eat. Gradually he lost his motor and mental abilities. "The child often dies within the first month after diagnosis," Marie-Cécile Nassogne regrets, head of neuro-pediatrics at the Cliniques Universitaires Saint-Luc. "Sometimes we can overcome the disease by a marrow transplant. But before we make the diagnosis even before the first symptoms appear. Otherwise, the disease can be life-long aftermath and would worsen the condition of the child. Furthermore, we find a suitable donor, which is not always easy. "

Morquio syndrome: the enzyme therapy almost from the valley?

Morquio's syndrome, or mucopolysaccharidosis of type IV (MPSIV), piling on kerataansulfaat body of the child. From the second year growing skeleton of the child no longer normal. Patients with this syndrome are one meter to five feet tall and have multiple bone abnormalities. Currently the only treatment of a wide range of surgical procedures. Thus, the effects on the body of that bone disorders are limited. "But we try to develop an enzyme replacement therapy. Once the results are satisfactory, we can slow the evolution of the morquiosyndroom "explains Prof. Nassogne out.

Sanfilippo syndrome: a gene therapy?

Another type of mucopolysaccharidosis, the Sanfilippo syndrome (MPSIII). It occurs mainly in children between two and six years. Children who have severe neurological abnormalities. "A child with Sanfilippo care is a delicate operation, while preventing severe behavioral problems," emphasized Prof. Nassogne. The syndrome has many symptoms: hyperactivity, insomnia, bowel problems, involuntary movements, progressive loss of speech, etc. Someone's syndrome rarely Sanfillipo over twenty years. Fortunately, researchers books progress in seeking treatment. In 2011 gene therapy clinical testing from researchers. Should this happen, we would have a revolutionary treatment for the short gent to repair it sanfilipposyndroom causes.