06-22-2014, 09:04 PM
Farber disease
Discovered by Sidney Farber, this disease is characterized by mutations in ASAH1 gene coding for an enzyme acid ceramidase which catalyzes the synthesis and degradation of ceramide (waxy lipid, composed out of sphingosine and fatty acid) into sphingosine and fatty acid.
Basically, when the enzyme acid ceramidase is mutated, it cannot catalyze its normal functions which leads to accumulation of lipids that were supposed to be degraded. This can cause a lot of different problems in the central nervous system, liver, throat, joints, heart, kidneys, etc., including vomiting, arthritis, swollen joints, swollen lymph nodes, breathing difficulty and others.
Symptoms usually appear during the first few weeks of life, but they can also occur sometimes later in life. Children with this disease usually die within 2 years of life due to lung disease, or enlarged liver and speen.
Krabbe disease
This disease also falls into the category of sphingolipidosis. It is named after Danish neurologist Knud Krabbe, but it is also known by other names like globoid cell leukodystrophy and galactosylceramide lipidosis.
It is caused by mutations in GALC gene (on chromosome 14). GALC gene encodes for an enzyme galactosylceramidase which removes galactose from galactosylceramides. If the enzyme is mutated, accumulated galactosylceramides affect the myelin sheath of nerve cells which can cause huge problems to nervous system and motor skills. This is why Krabbe disease belongs to the group of leukodystrophy disorders which are characterized by degeneration of white matter in the brain (myelin sheath is a part of white matter).
Krabbe disease is often fatal and pretty common among some population groups. Symptoms like fevers, vomiting, seizures, limb stiffness, feeding difficulties and slow motor and mental development usually appear within first six months of life. Other symptoms include deafness, optic nerve enlargement, blindness, paralysis, spasticity, muscle weakness and others.
There are two forms of this disease: juvenile and adult-onset, with adult-onset having slower progression.
Discovered by Sidney Farber, this disease is characterized by mutations in ASAH1 gene coding for an enzyme acid ceramidase which catalyzes the synthesis and degradation of ceramide (waxy lipid, composed out of sphingosine and fatty acid) into sphingosine and fatty acid.
Basically, when the enzyme acid ceramidase is mutated, it cannot catalyze its normal functions which leads to accumulation of lipids that were supposed to be degraded. This can cause a lot of different problems in the central nervous system, liver, throat, joints, heart, kidneys, etc., including vomiting, arthritis, swollen joints, swollen lymph nodes, breathing difficulty and others.
Symptoms usually appear during the first few weeks of life, but they can also occur sometimes later in life. Children with this disease usually die within 2 years of life due to lung disease, or enlarged liver and speen.
Krabbe disease
This disease also falls into the category of sphingolipidosis. It is named after Danish neurologist Knud Krabbe, but it is also known by other names like globoid cell leukodystrophy and galactosylceramide lipidosis.
It is caused by mutations in GALC gene (on chromosome 14). GALC gene encodes for an enzyme galactosylceramidase which removes galactose from galactosylceramides. If the enzyme is mutated, accumulated galactosylceramides affect the myelin sheath of nerve cells which can cause huge problems to nervous system and motor skills. This is why Krabbe disease belongs to the group of leukodystrophy disorders which are characterized by degeneration of white matter in the brain (myelin sheath is a part of white matter).
Krabbe disease is often fatal and pretty common among some population groups. Symptoms like fevers, vomiting, seizures, limb stiffness, feeding difficulties and slow motor and mental development usually appear within first six months of life. Other symptoms include deafness, optic nerve enlargement, blindness, paralysis, spasticity, muscle weakness and others.
There are two forms of this disease: juvenile and adult-onset, with adult-onset having slower progression.
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