Galactose is an essential carbohydrate for cellular metabolism, as it contributes to energy
production and storage in several human tissues while also being a precursor for …

In recent years, gene therapy has been raising hopes toward viable treatment strategies for
rare genetic diseases for which there has been almost exclusively supportive treatment. We …

Gaucher disease (GD) is an autosomal recessive inherited lysosomal storage disease that
often presents in early childhood and is associated with damage to multiple organ systems …

During the past decades, several therapeutic approaches have been developed and made
rapidly available for many patients afflicted with lysosomal storage disorders (LSDs), inborn …

The mucopolysaccharidoses (MPSs) include 11 different conditions caused by specific
enzyme deficiencies in the degradation pathway of glycosaminoglycans (GAGs). Although …

Krabbe disease or globoid cell leukodystrophy (GLD) is an autosomal recessive disorder of
myelination caused by the deficiency of galactocerebrosidase (GALC) activity. This enzyme …

Krabbe disease is a rare neurodegenerative disorder caused by a deficiency in
galactocerebrosidase. The only effective treatment is hematopoietic stem cell transplantation …

Purpose Newborn screening (NBS) for Krabbe disease (KD) is performed by measurement
of galactocerebrosidase (GALC) activity as the primary test. This revealed that GALC activity …

Newborn screening was established over 50 years ago to identify cases of disorders that
were serious, urgent, and treatable, mirroring the criteria of Wilson and Jungner. In the last …

Background Krabbe disease is a rare neurodegenerative disorder caused by a deficiency in
the lysosomal enzyme galactocerebrosidase. Patients with Krabbe disease present with a …