Angiokeratoma corporis diffusum with features of a mucopolysaccharidosis.
Two cases of angiokeratoma corporis diffusum with mental retardation and some features of a mucopolysaccharidosis have been investigated biochemically, histopathologically, and by electron microscopy. It is submitted, on this evidence, that they are examples of a hitherto undescribed form of lysosomal enzyme deficiency disease.
D000293:Adolescent; D002648:Child; D000795:Fabry Disease / Q000145:classification / Q000201:enzymology / Q000235:genetics*; D005260:Female; D005696:Galactosidases / Q000172:deficiency; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D008854:Microscopy, Electron; D009083:Mucopolysaccharidoses / Q000145:classification; D012867:Skin / Q000473:pathology
D005696:Galactosidases