beta-Mannosidase deficiency in Anglo Nubian goats.
Two newly-born Anglo Nubian kids with clinical evidence of a severe neurological condition were examined. Pathological examination revealed cytoplasmic vacuolation in neural tissue and in localized areas in the kidney, pancreas and lymphoid tissue. Biochemical investigations demonstrated a deficiency of beta-mannosidase in tissues and blood serum.
D000818:Animals; D000831:Animals, Newborn; D002239:Carbohydrate Metabolism, Inborn Errors / Q000201:enzymology / Q000662:veterinary*; D004950:Esterases / Q000378:metabolism; D006026:Glycoside Hydrolases / Q000378:metabolism; D006041:Goats; D007668:Kidney / Q000201:enzymology; D008099:Liver / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D008361:Mannosidases / Q000172:deficiency* / Q000378:metabolism; D044902:beta-Mannosidase
D004950:Esterases; D006026:Glycoside Hydrolases; D008361:Mannosidases; D044902:beta-Mannosidase