Diagnosis of Zellweger syndrome by rectal biopsy: immunoblot of peroxisomal beta-oxidation enzyme and activity of dihydroxyacetone phosphate acyltransferase in rectal mucosa.
D000102:Acetyl-CoA C-Acyltransferase / Q000378:metabolism; D042962:Acyl-CoA Oxidase; D000217:Acyltransferases / Q000378:metabolism*; D001706:Biopsy; D001927:Brain Diseases / Q000175:diagnosis*; D004796:Clinical Enzyme Tests; D006530:Hepatorenal Syndrome / Q000175:diagnosis*; D006801:Humans; D007158:Immunologic Techniques; D007231:Infant, Newborn; D007413:Intestinal Mucosa / Q000201:enzymology*; D007674:Kidney Diseases / Q000175:diagnosis*; D008099:Liver / Q000201:enzymology; D008830:Microbodies / Q000201:enzymology*; D010088:Oxidoreductases / Q000378:metabolism; D012007:Rectum / Q000201:enzymology
D010088:Oxidoreductases; D042962:Acyl-CoA Oxidase; D000217:Acyltransferases; D000102:Acetyl-CoA C-Acyltransferase; C020051:glycerone-phosphate O-acyltransferase