A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation.

Abstract

alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency is a rare hereditary lysosomal storage disease, and only three alpha-NAGA-deficient patients with angiokeratoma corporis diffusum (Kanzaki) have been described. We report a further case in a 47-year-old Japanese woman, the product of a consanguineous marriage. The remarkable findings in this patient were her normal intelligence, Ménière's syndrome, disturbance of peripheral sensory nerves, hearing loss and cardiac hypertrophy. alpha-NAGA enzyme activity in her plasma was 0.77% of the normal value. Other enzyme activities, such as alpha-galactosidase, beta-galactosidase, alpha-L-fucosidase, beta-mannosidase and aspartylglucosaminidase, were within normal limits. A large quantity of amino acid O-glycans was detected in her urine. Gene analysis revealed a novel point mutation (G-->A transition) at nucleotide 11018 (986 in the cDNA) resulting in an Arg-329-Gln substitution. Kanzaki disease has the same enzyme defect as Schindler disease, but the manifestations are quite different.

• Authors: K Kodama, H Kobayashi, R Abe, A Ohkawara, N Yoshii, S Yotsumoto, T Fukushige, Y Nagatsuka, Y Hirabayashi, T Kanzaki
• Journal: The British journal of dermatology (Br J Dermatol) Vol. 144 Issue 2 Pg. 363-8 (Feb 2001) ISSN: 0007-0963 [Print] England
• PMID: 11251574 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hexosaminidases
• NAGA protein, human
• alpha-N-Acetylgalactosaminidase

Topics

• Fabry Disease (complications, pathology)
• Female
• Hexosaminidases (deficiency)
• Humans
• Intellectual Disability
• Lysosomal Storage Diseases, Nervous System (complications)
• Lysosomes (ultrastructure)
• Meniere Disease (etiology)
• Middle Aged
• alpha-N-Acetylgalactosaminidase