[Effect of continuous subcutaneous infusion of deferoxamine in a boy with congenital hypoplastic anemia].
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Anemia, Aplastic↗
Biomedical subjects
I Gomibuchi
Publications and source records attributed to I Gomibuchi.
Pathochemistry, pathogenesis and enzyme replacement in multiple-sulfatase deficiency.
Multiple-sulfatase deficiency (MSD) is now considered to be heterogeneous and could be classified into three or four clinical phenotypes according to the onset of the disease: neonatal, late infantile, juvenile and possibly adult type. Neonatal-type MSD shows severe clinical involvement and practically no arylsulfatase A, B and C activities in cultured skin fibroblasts. Furthermore, arylsulfatase A activity in neonatal-type MSD was not enhanced by the addition of thiosulfate. Therefore, it is distinct from late infantile-type MSD. The degradation of 14C-sulfatide can occur in MSD-cultured skin fibroblasts and was much higher than in late infantile-type MLD. The addition of thiol protease such as leupeptin to cultured MSD skin fibroblasts enhanced arylsulfatase A activity as well as the degradation of 14C-sulfatide. This suggests that the decreased activities of arylsulfatase A is due to an acceleration of the enzyme degradation. Enzyme replacement by the addition of arylsulfatases of different sources (human liver, brain, fungus) was carried out in cultured MSD skin fibroblasts. Human enzymes of arylsulfatase A and B were mostly taken up by MSD cells rather than those of fungus origin. By the exposure to leukocytes to cultured skin fibroblasts, MSD cells corrected arylsulfatase A and B activities.
Adolescent↗
Partial deficiency of beta-hexosaminidase activity in canine GM2-gangliosidosis.
4-Methylumbelliferyl-N-acetylglucosamine-6-sulfate (4MUGLc6S) which is known to be a specific substrate for human hexosaminidase A was used to determine enzymatic features of canine GM2-gangliosidosis. The enzyme activity using 4MUGlc6S in affected dog brain and liver was less than 20 to 30% of control tissues, whereas total 4-methylumbelliferyl beta-glucosaminidase activity in canine GM2-gangliosidosis was normal or elevated. However, when beta-hexosaminidase was fractionated by DEAE-Sepharose column chromatography, beta-hexosaminidase A like fraction in affected dog tissues was reduced to 20 to 30% of control. These data suggest that canine GM2-gangliosidosis is analogous to human juvenile.
Animals↗