Subjects
We identified two consanguineous families NMD02 and ID01 (BY0084) (Figure 1), in which affected individuals had a Mucolipidosis II alpha/beta like syndrome (OMIM#252500). Clinical analyses involved complete blood counts and radiographs for two affected individuals III:9 and III:11 of family NMD02 and affected child IV:5 of ID01. Morning urine samples were collected from three affected III:9, III:10, III:11 and two unaffected individuals II:3, III:3 of family NMD02 for qualitative measurements of glycosaminoglycan levels by Berry spot test. Briefly the urine sample was applied to a filter paper and air dried. Then toluidine blue O was applied and development of purple color was regarded as presence of GAGs in urine. Lysozyme enzymes from dried blood were measured for individual IV:5 of family ID01. Blood samples were collected from all participants for genetic studies and the DNA was extracted by a standard protocol.