title: HOMOCYSTINURIA: ABSENCE OF CYSTATHIONINE IN THE BRAIN.
abstract: Cystathionine was absent in the cerebrum of a patient with homocystinuria. This supports the theory that the enzymatic defect in homocystinuria is deficiency of cystathionine synthetase.
mesh_terms: D000596:Amino Acids; D001921:Brain; D002648:Child; D002845:Chromatography; D003540:Cystathionine; D003541:Cystathionine beta-Synthase; D003553:Cystine; D006712:Homocystinuria; D006801:Humans; D006836:Hydro-Lyases; D007668:Kidney; D008099:Liver / Q000201:enzymology*; D008659:Metabolic Diseases; D008715:Methionine; D009419:Nerve Tissue Proteins; D000608:Renal Aminoacidurias; D012694:Serine; D013654:Taurine; D014166:Transferases
chemical_list: D000596:Amino Acids; D009419:Nerve Tissue Proteins; D013654:Taurine; D003540:Cystathionine; D012694:Serine; D003553:Cystine; D008715:Methionine; D014166:Transferases; D006836:Hydro-Lyases; D003541:Cystathionine beta-Synthase
keywords: AMINO ACIDS; AMINOACIDURIA, RENAL; BRAIN; CHILD; CHROMATOGRAPHY; CYSTINE; HYDRO-LYASES; LIVER ENZYMOLOGY; METABOLIC DISEASES; METHIONINE; NERVE TISSUE PROTEINS; SERINE; TAURINE