Homocystinuria due to cystathionine synthase deficiency.
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors; D002648:Child; D005260:Female; D006710:Homocysteine / Q000378:metabolism*; D006711:Homocystine / Q000378:metabolism; D006712:Homocystinuria; D006801:Humans; D006836:Hydro-Lyases / Q000378:metabolism; D066298:In Vitro Techniques; D008607:Intellectual Disability; D008099:Liver / Q000201:enzymology; D008715:Methionine / Q000378:metabolism
D006710:Homocysteine; D006711:Homocystine; D008715:Methionine; D006836:Hydro-Lyases