Globoid leukidystrophy. I. Clinical and enzymatic studies

In a complementary clinical and biochemical study of patients with globoid leukodystrophy (GLD), cases differed from the classic phenotype of Krabbe disease and suggested a broader spectrum of clinical presentations. In terms of pathogenesis, the advanced development achieved before symptom onset suggested normal early maturation and myelination. Enzyme studies were carried out on white blood cells from the patients, their siblings, parents, and normal agematched controls. These studies utilized galactosyl ceramide of brain origin and a new assay technique. We found a specific deficit in cerebrosidase activity in leukocyte preparations from patients with GLD and intermediate levels of activity in their parents. These findings confirm prior reports and indicate an autosomal recessive mode of genetic expression.