Abstract
For normal bone growth, matrix must be laid down and resorbed. The process of remodeling could be altered if the activity of a single lysosomal hyrolase was deficient since compounds catabolized by the enzyme might then accumulate within bone cells and matrix with resultant abnormalities in bone architecture and growth retardation. We have studied a 9 year old dwarfed white male with normal intelligence whose disease appears limited to bone. He shows no corneal infiltration, visceromegaly or mucopolysacchariduria. His radiological diagnosis is spondyloepiphysealmetaphyseal dysplasia. Chemical studies of cultured skin fibroblasts from the patient showed decreased enzyme activity of α-L-fucosidase (controls 2.67 ± .75 vs patient 0.25 ± .05 n-moles/min/mg protein) with accumulation of fucose in his cells (controls 5.42 ± 1.52 vs patient 27 γ/mg protein). Fibrobalst enzyme activities for α-L-mannosidase, acid phosphatase, β-D-galactosidase and n-acetyl glucosaminidase were comparable to normal controls. A bone specimen from the patient was compared to 7 control specimens for hydrolase activity. Fucosidase activity was decreased in the patient (controls 3.2 ± .38 vs patient 0.36 n-moles/hr/mg wet wt.) as were several other acid hydrolyses. Compositional analyses of bone are in progress to define the character of the stored material. Thus far, the data in this patient is consistent with the hypothesis that his bone disease is due to a deficiency of lysosomal hydrolase, α-L-fucosidase. Since lysosomes in bone cells contain a variety of acid hydrolyses, the chemical bases for other chondrodystrophies may be related to the altered activity of one or more of these enzymes.
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Schafer, I., Powell, D. & Sullivan, J. METABOLISM: Lysosmal bone disease. Pediatr Res 5, 391–392 (1971). https://doi.org/10.1203/00006450-197108000-00086
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DOI: https://doi.org/10.1203/00006450-197108000-00086
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