Abstract | BACKGROUND: OBSERVATIONS: A 46-year-old Japanese woman had diffuse angiokeratoma, mild intellectual impairment, and peripheral neuroaxonal degeneration. The angiokeratoma first appeared on her lower torso when she was 28 years old, and then it became diffusely distributed. Histopathologically, the telangiectasia had localized hyperkeratosis; ultrastructural examination revealed clear cytoplasmic vacuoles in all dermal cells, particularly in vascular and lymphatic endothelial cells and in eccrine sweat gland cells. The lysosomal pathologic features and increased urinary excretion of O-linked glycopeptides suggested the deficiency of a specific glycosidase. Enzyme analyses revealed less than 2% of normal alpha-N-acetylgalactosaminidase activity and the absence of immunodetectable enzyme protein. Her two unaffected children had half-normal alpha-N-acetylgalactosaminidase levels, consistent with the autosomal recessive inheritance of the enzymatic defect. CONCLUSIONS:
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Authors | T Kanzaki, M Yokota, F Irie, Y Hirabayashi, A M Wang, R J Desnick |
Journal | Archives of dermatology
(Arch Dermatol)
Vol. 129
Issue 4
Pg. 460-5
(Apr 1993)
ISSN: 0003-987X [Print] United States |
PMID | 8466216
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- Hexosaminidases
- NAGA protein, human
- alpha-N-Acetylgalactosaminidase
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Topics |
- Fabry Disease
(enzymology, pathology)
- Female
- Hexosaminidases
(deficiency)
- Humans
- Microscopy, Electron
- Middle Aged
- alpha-N-Acetylgalactosaminidase
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