A new type of mucolipidosis with  -galactosidase deficiency and glycopeptiduria.
D000293:Adolescent; D002845:Chromatography; D005696:Galactosidases / Q000032:analysis / Q000097:blood / Q000378:metabolism*; D005959:Glucosidases / Q000032:analysis / Q000097:blood; D006020:Glycopeptides / Q000652:urine*; D006025:Glycosaminoglycans / Q000652:urine; D006596:Hexosaminidases / Q000032:analysis / Q000097:blood; D006801:Humans; D007668:Kidney / Q000473:pathology; D008052:Lipid Metabolism, Inborn Errors / Q000378:metabolism* / Q000473:pathology / Q000652:urine; D008064:Lipidoses / Q000378:metabolism* / Q000473:pathology / Q000652:urine; D008099:Liver / Q000201:enzymology / Q000473:pathology; D008297:Male; D012007:Rectum / Q000201:enzymology
D006020:Glycopeptides; D006025:Glycosaminoglycans; D005696:Galactosidases; D005959:Glucosidases; D006596:Hexosaminidases