engleski

The first case of mucolipidosis III in Croatia

A six-year-old boy with mucolipidosis III or pseudo-Huler polydystrophy is described. The disease is manifested by multiple progressive joint contractures, especially of fingers presenting as claw hands. In mucolipidosis III, a basic biochemical disorder is the absence of mannose-6-phosphate, a marker enabling lysosomal membrane receptors to recognize lysosomal enzymes. The diagnosis of mucolipidosis was established after exclusion of rheumatoid arthritis and mucopolysaharidosis. In serum and cultured skin fibroblasts, high catalytic activities of several lysosomal enzymes with strikingly decreased values in fibroblasts were found. The clinical and biochemical results will be presented in detail in our poster.

mucolipidosis III; Croatia

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