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KMID : 0918520170170030085
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Journal of the Korean Society of Inherited Metabolic Disease
2017 Volume.17 No. 3 p.85 ~ p.91
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Comparison of Clinical Features of 11 Korean Patients with Mucolipidosis II and III Including a Case of Mucolipidosis II with a Novel Mutation of GNPTAB
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Kim Jin-Sup
Yang Mi-Sun
Yang A-Ram
Cho Eun-Hye
Park Hyung-Doo
Sohn Young-Bae
Cho Sung-Yoon
Jin Dong-Kyu
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Abstract
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Purpose: The aim of this study was to describe the clinical and biochemical features as well as the molecular analysis of a newly diagnosed illustrative case with ML II and to analyze the clinical features of 11 Korean patients with ML II/III.
Method: Including a newly diagnosed patient, total 11 patients in 10 families were diagnosed as ML II (n=7) or ML III (n=4) were enrolled in the study. A diagnosis of ML II or III was made by demonstrating increased lysosomal enzyme activities in the plasma and sequence analysis of GNPTAB with characteristic clinical features.
Result: A illustrative case of ML II patient was a 17 month-old boy showing characteristic facial appearance, multiple joint contractures with cardiac involvements. The enzyme assay showed increased lysosomal enzyme activities in the plasma. We identified compound heterozygous mutations in GNPTAB sequence analysis, including a frameshift (c.3428dupA [pAsn1143Lysfs*3]) and a nonsense variant c.673C>T (p.Gln225*). In total 11 patients with ML II/III, the patients with ML II showed severe growth retardation (height standard deviation score -3.2 [±1.5]), compare to patients with ML III. Furthermore, patients with ML II patients had serious cardiac problem (n=4), hepatomegaly (n=3) and underwent tracheostomy (n=3) with further respiratory support due to respiratory distress. To improve osteoporosis
and bone pain, all patients with ML III and four of 7 patients with ML II treated with intravenous pamidronate.
Conclusion: Here we showed a newly diagnosed case of ML II and clinical features of 11 Korean patients with ML II or III. These data could be helpful for further diagnosis of mucolipidosis, a rare inherited metabolic disease, in Korea.
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KEYWORD
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Mucolipidosis, GNPTAB, Pamidronate
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