A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation.
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.
Kodama
K
K
Department of Dermatology, Hokkaido University School of Medicine, North 15, West 7, Kita-ku, Sapporo 060-8638, Japan. k-kodama@med.hokudai.ac.jp
Kobayashi
H
H
Abe
R
R
Ohkawara
A
A
Yoshii
N
N
Yotsumoto
S
S
Fukushige
T
T
Nagatsuka
Y
Y
Hirabayashi
Y
Y
Kanzaki
T
T
D000795:Fabry Disease / Q000150:complications* / Q000473:pathology; D005260:Female; D006596:Hexosaminidases / Q000172:deficiency*; D006801:Humans; D008607:Intellectual Disability; D020140:Lysosomal Storage Diseases, Nervous System / Q000150:complications; D008247:Lysosomes / Q000648:ultrastructure; D008575:Meniere Disease / Q000209:etiology*; D008875:Middle Aged; D048809:alpha-N-Acetylgalactosaminidase
D006596:Hexosaminidases; C482722:NAGA protein, human; D048809:alpha-N-Acetylgalactosaminidase