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.
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.