Juvenile GM2 gangliosidosis: partial deficiency of hexosaminidase A.
D000581:Amidohydrolases / Q000378:metabolism*; D001927:Brain Diseases / Q000201:enzymology*; D002540:Cerebral Cortex / Q000378:metabolism; D002675:Child, Preschool; D005260:Female; D005732:Gangliosides / Q000378:metabolism*; D005808:Genes, Recessive; D006601:Hexoses; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D008064:Lipidoses / Q000201:enzymology; D008297:Male; D012867:Skin / Q000201:enzymology
D005732:Gangliosides; D006601:Hexoses; D000581:Amidohydrolases