Generalized lysosomal storage in Yunis Varón syndrome.
Muscle biopsy in a neonate with features of Yunis Varón syndrome revealed a vacuolar myopathy with evidence of lysosomal storage disease. Similar vacuoles were also present in heart, cartilage, central nervous system and cultured fibroblasts. Although the histologic findings in the central nervous system resembled those of infantile acid maltase deficiency, the essayed lysosomal enzymes were normal. Chromatography of urine revealed abnormal bands of unidentified oligosaccharides. This is the first report of generalized storage disease in Yunis Varón syndrome. The biochemical defect is unknown.
D000015:Abnormalities, Multiple / Q000378:metabolism* / Q000473:pathology; D002478:Cells, Cultured; D002531:Cerebellum / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D005347:Fibroblasts / Q000502:physiology; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency; D006801:Humans; D006867:Hydrolases / Q000378:metabolism; D007231:Infant, Newborn; D016464:Lysosomal Storage Diseases / Q000378:metabolism* / Q000473:pathology; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology; D009844:Oligosaccharides / Q000652:urine; D013577:Syndrome
D009844:Oligosaccharides; D006867:Hydrolases; D005087:Glucan 1,4-alpha-Glucosidase