Krabbe's Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC), which is necessary for the breakdown (metabolism) of the sphingolipids galactosylceremide and psychosine.
Galactocerebrosidase (GALC) is a lysosomal b-galactosidase responsible for the hydrolysis of the galactosyl moiety from several galactolipids, including galactosylceramide and psychosine. The deficiency of this enzyme results in the autosomal recessive disorder called Krabbe disease.
The United Leukodystrophy Foundation (ULF), incorporated in 1982, is a non-profit, voluntary health organization dedicated to funding cutting-edge research and to providing patients and their families with disease information and medical referrals.
What is leukodystrophy? Leuko- means “white”, -dys means “abnormal” and -troph means “growth”. So, leukodystrophy is a dysmyelinating disease of the central and peripheral nervous system caused by genetic mutations in enzymes necessary for myelin production.
When Elias Wendland arrived in 2007, his family celebrated the birth of a healthy baby boy, completing their family of five. But when he turned 5 months old, they began to notice something off about his development. He wasn't feeding himself anymore. He wasn't making much progress at all. When they took him to a neurologist, doctors told the Wendlands something devastating. Elias had Krabbé disease, a rare type of leukodystrophy that would destroy his brain cells. The family learned about hospice, about hanging on, and about a kind of life and love they never expected.
Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems.
Krabbe disease, also known as globoid cell leukodystrophy or galactosylceramide lipidosis, is an autosomal-recessive sphingolipidosis caused by deficient activity of the lysosomal hydrolase galactosylceramide beta-galactosidase (GALC)
Krabbe disease is a rare neurological disorder caused by a deficiency in the lysosomal enzyme, β-galactocerebrosidase, resulting in demyelination of the central and peripheral nervous systems.
Krabbe disease (also called globoid cell leukodystrophy) is a severe neurological condition. It is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination) in the nervous system.