title: A two-year-old patient with an atypical expression of GM1-beta-galactosidase deficiency: biochemical, immunological, and cell genetic studies.
abstract: Cultured skin fibroblasts from a 2-year-old boy with an atypical form of beta-galactosidase deficiency have been studied. With the artificial substrate 4-methylumbelliferyl-beta-D-galactopyranoside, 5--15% residual activity was found in fibroblasts from this patient. Most of this activity was in the monomeric A form of the enzyme, very little in the multimeric B form. Km value, pH profile, and heat lability of the mutant enzyme were similar to those of beta-galactosidase from control fibroblasts. Immunological studies showed that the mutant enzyme cross-reacted with an antiserum raised against human liver beta-galactosidase, but the catalytic activity per unit antigenic activity was lower than normal. It was demonstrated by somatic cell hybridization that the gene mutation in this patient is different from that in patients with type 1 or type 2 GM1-gangliosidosis. No genetic complementation was found after fusion of fibroblasts from this patient with those from two other clinical variants of GM1-gangliosidosis formerly designated type 3 and adult type 4.
mesh_terms: D002478:Cells, Cultured; D002675:Child, Preschool; D005677:G(M1) Ganglioside; D005696:Galactosidases / Q000172:deficiency* / Q000378:metabolism; D005733:Gangliosidoses / Q000235:genetics*; D005816:Genetic Complementation Test; D014644:Genetic Variation; D006801:Humans; D007700:Kinetics; D008297:Male; D010641:Phenotype; D012867:Skin / Q000201:enzymology
chemical_list: D005677:G(M1) Ganglioside; D005696:Galactosidases