An inherited neurological (nerve) disorder where there is a lack of an enzyme called Galactocerebrosidase, which is responsible for breaking down certain substances in a cell’s recycling centre (lysosome).
This results in the accumulation of certain types of fats called galactolipids, this interrupts and destroys the protective coating (myelin) of nerve cells in the brain and throughout the nervous system.
Signs and symptoms of Krabbe disease develop in babies before 6 months of age.
When it develops in older children and adults, the course of the disease can vary greatly.
This condition maybe referred as Globoid cell leukodystrophy.
Cause
Two mutated copies of a particular gene result in little or no production of an enzyme called galactocerebrosidase .
Family history-autosomal recessive disorder (Both parents who are carriers of the recessive genes responsible and can cause a 25% chance of their sibling getting this condition)
If both parents are carriers, a child has a 25 percent chance of inheriting two recessive genes (and getting FMF), a 50 percent chance of getting one dominant and one recessive gene (and becoming a carrier), and a 25 percent chance of getting two dominant genes (and remaining unaffected).
Source: ResearchGate ' What neurologist look for in the Brain and spinal cord'
Source: www.stanfordchildrens.org
Symptoms
Babies:
Feeding difficulties?
Unexplained crying?
Extreme irritability?
Fever with no sign of infection?
Declines in alertness?
Slow motor development — taking longer than average to sit up, crawl and walk?
Please copy and paste any key words from the title: Krabbe disease in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).
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