Amercian College of Medical Genetics Krabbe Disease ACT SHEET for Medical Professionals
Signs & Symptoms (Infantile)
Symptoms usually begin at two to six months of age. The average age of death is 13 months.
General irritability (excessive crying), stiffness, arrest of motor and mental development, loss of previously attained milestones, difficulty in feeding, and seizures.
Many babies in Stage One Krabbe Disease are misdiagnosed with colic, reflux, food/milk allergy, or even cerebral palsy.
Children may have severe arching of the back, jerking of the arms and/or legs, more severe and rapid deterioration of mental and motor function, generally fed through a tube.
Children lose mental and motor function, become deaf and blind, unable to move or speak.
Later onset Krabbe Disease, while less common, delays the onset of neurological symptoms until middle childhood, adolescence or adulthood.
Globoid Cell Leukodystrophy, more commonly known as Krabbe (crab ā) Disease, is an inherited neurodegenerative lysosomal enzyme disorder affecting the central and peripheral nervous systems.
Children who inherit the disorder lack an important enzyme (GALC) that is needed for the production of normal myelin (white matter) in the central and peripheral nervous systems. Myelin is the protective covering of the nerve cells and acts like insulation surrounding an electric wire.
When the enzyme GALC is deficient, it produces toxic substances in the brain, causing myelin loss, change to brain cells, and neurological damage.
Krabbe Disease has four phenotypes: early infantile, later onset infantile, adolescent, and adult. Progression of the disorder is rapid and death occurs in early childhood in the infantile types.
One in 100,000 live births in the United States are afflicted with Krabbe Disease. Approximately 2 million people (or one out of 125) in the United States are carriers of the genetic deficiency that causes Krabbe Disease. Yet, awareness about this disease is very limited. Until recently the only treatment options were limited to symptom management and palliative care.
Now, a new and revolutionary treatment, Cord Blood Transplant is saving the lives of many sick, young children and babies. This new method of treatment is bringing new hope to those afflicted with a variety of diseases including Krabbe, other Leukodystrophies and Lysosomal Storage Disorders.
Krabbe Disease is Genetic
Krabbe disease is inherited in an autosomal recessive manner. If both parents carry a disease-causing mutation in the GALC gene there is a 25 percent chance of having a Krabbe affected child with each conception, a 50 percent chance that each offspring will be a carrier and a 25 percent chance of having a child who does not carry a disease causing mutation.
This genetic disease is found in all ethnic groups.
The carrier rate in the general population is estimated to be 1 in 125. Krabbe Disease occurs in about 1 in 100,000 births in the United States.
Diagnosis can easily be made by testing the white cells from a blood sample for GALC activity.