A case of mucolipidosis II: biochemical, nutritional, and immunological studies |
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Authors: | S Kojima S Okada H Kai K Ha O Nose T Ikeda T Yutaka M Kato H Yabuuchi |
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Institution: | 1. Pediatric Clinic, Meiwa Hospital, Hyogo;2. Department of Pediatrics, Osaka University Hospital, Osaka;3. Pediatric Clinic, Kansai Rosai Hospital, Hyogo |
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Abstract: | A case of mucolipidosis II was studied biochemically, nutritionally and immunologically. A possible functional deficiency of T cells was observed, but discrepancy between B cells and immunoglobulin content was not reasonably explained at this moment. There was no basic nutritional problem in this case and it is more likely that his growth retardation was due to frequent episodes of severe respiratory infection because he received adequate calorie intake with low normal basal metabolic rate. Results of enzymatic assays were also presented. |
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Keywords: | Mucolipidosis II neuraminidase urinary oligosaccharides energy metabolism malnutrition lymphocyte subpopulation delayed type skin test |
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