Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings.

doi:10.1007/BF00712015

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Article

Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings.

Journal of inherited metabolic disease - 1 Jan 1994

Chabás A, Coll M J, Aparicio M, Rodriguez Diaz E

Abstract excerpt

Two adult siblings with an alpha-N-acetylgalactosaminidase deficiency are described. The patients' major features are massive lymphoedema and angiokeratoma corporis diffusum. Neurological evaluation performed in one of the patients was considered within normal limits. Blood type is A positive in...

Topics

Adult
Fabry Disease
Female
Hexosaminidases
Humans
Lymphedema
Male
Oligosaccharides
Phenotype
alpha-N-Acetylgalactosaminidase

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