title: Clinical and laboratory features of homocystinuria.
abstract: Classic homocystinuria is an autosomal recessive metabolic disease due to a cystathionine-beta-synthase deficiency with consequent blocking of homocysteine and serine condensation for producing cystathionine. The characteristic biochemical abnormalities in the blood and urine are: abnormal accumulation of methionine, abnormal presence of homocystine and low values of cystathionine, cysteine or cystine (disulfide of the cysteine). The most frequent clinical signs are: subluxation of the lenses, mental retardation of different degrees, long bones excessively lengthened, scoliosis, susceptibility to arterial and venous thromboembolism. The latter is frequent after surgery, and may be life-threatening. This disease must be differentiated from Marfan's syndrome via laboratory tests.
authors.affiliation: 2nd Pediatric Clinic, University of Bologna, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Cacciari
authors.forename: S
authors.initials: S
authors.lastname: Salardi
mesh_terms: D003937:Diagnosis, Differential; D006712:Homocystinuria / Q000175:diagnosis*; D006801:Humans