Clinical and Biochemical Studies of I-cell Disease

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Clinical and biochemical studies of four patients with I-cell disease are presented. I-cell disease is classified as mucolipidosis, but the etiology is still unknown. The particular inclusion body and its clinical feature may rely on the characteristic multiple enzyme leakage including related with connective tissue metabolism, and may follow to the abnormal metabolism of connective tissue. Multiple acid hydrolase deficiencies were demonstrated in cultured skin fibroblasts from patients with I-cell disease, and elevated β-glucuronidase activity in culture medium was also noticed. These findings may be due to excessive leakage of enzymes from the cells. Incorporation of 35SO4 into intracellular mucopolysaccharide by fibroblast from the patient with I-cell disease, was markedly increased and that from obligated heterozygote was also moder-ately increased, compared with that from normal subjects. Nevertheless, there was no massive excretion of mucopolysaccharides in urine from three patients. No specific accumulation of all classes of lipids occured in brain and visceral organs. But, relative decrease of total cholesterol was noticed. A remarkable elevation of many acid hydrolases activity is demonstrated in serum of the patients with I-cell disease, but for slight high in β-galactosidase and acid phosphatase and same level in β-glucosidase. And the mild high activity from some heterozygotes was demonstrated. In liver, only β-galactosidase is deficient. The activity of acid hydrolases from the subcellular fractionation (nuclear, mitochondria, microsome, and super) revealed the different pattern of the activity in β-glucosidase and total hexosaminidase. It may be concerned with the abnormality of lysosome itself.
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Clinical and Biochemical Studies of I-cell Disease

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