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β‐Galactosidase deficiency in an adult: A biochemical and somatic cell genetic study on a variant of GM 1 ‐gangIiosidosis
Author(s) -
Koster J. F.,
Niermeijer M. F.,
Loonen M. C. B.,
Galjaard H.
Publication year - 1976
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1976.tb02272.x
Subject(s) - somatic cell , complementation , biology , genetics , mutation , somatic fusion , psychomotor retardation , cell fusion , gene , gangliosidosis , cell , medicine , phenotype , enzyme , biochemistry , pathology , alternative medicine
Biochemical data are presented of a 29‐year‐old male, who shows progressive psychomotor retardation and a β‐galactosidase deficiency in leucocytes and cultured skin fibroblasts. Somatic cell hybridization studies show that this variant of GM 1 ‐gangliosidosis is based on a different gene mutation than is present in types 1 and 2. No complementation is observed in fusion experiments with cells from type 3 variant.