title: [Clinical picture of homocystinuria with cystathionine beta-synthase deficiency in 19 Czech and Slovak patients].
abstract: BACKGROUND
  Homocystinuria due to cystathionine beta-synthase deficiency is an autosomal recessive disorder of methionine metabolism. It manifests with vascular, central nervous system and connective tissue disturbances, and phenotypically resembles Marfan's syndrome. We analysed the clinical course of homocystinuria in Czech and Slovak patients.
  
  
  RESULTS
  The group of homocystinuric patients consisted of 19 individuals (12 males and 7 females) aged 5-32 years (average age 18 years), who were diagnosed between 1980 and 1999. The overall incidence of homocystinuria in the Czech and Slovak Republics was 1:287,000. The proportion of pyridoxine-responsive patients was 47%. The average follow-up period was 10 years (range 1 month to 19 years). The prevalence of the individual signs in the group was as follows: lens dislocation--95% of patients, progressive myopia--79%, marfanoid habitus--74%, kyfoscoliosis--68%, osteoporosis--63%, psychomotor retardation--58%, other neurologic symptomatology--58% and tromboembolism--21%. The average delay between the first sign of the disease and the time when the diagnosis was made was 4 years (range 1 to 14 years). At the time of diagnosis the average levels of metabolites in plasma were as follows: total homocysteine 348 mumol/l (range 211-536), free homocystine 70 mumol/l (range 0-203) and methionine 359 mumol/l (range 75-937).
  
  
  CONCLUSIONS
  Both the clinical course of homocystinuria due to the cystathionine beta-synthase deficiency and its incidence in the Czech and Slovak Republics are similar to those in other populations. Since homocystinuria is a treatable disease, it should be included in the differential diagnosis of Marfan's syndrome, tromboembolism and severe psychomotor retardation.
authors.affiliation: Ustav dĕdicných metabolických poruch 1. LF UK a VFN, Praha.
authors.forename: M
authors.initials: M
authors.lastname: Orendác
authors.forename: V
authors.initials: V
authors.lastname: Kozich
authors.forename: J
authors.initials: J
authors.lastname: Zeman
authors.forename: J
authors.initials: J
authors.lastname: Hyánek
authors.forename: V
authors.initials: V
authors.lastname: Bzdúch
authors.forename: N
authors.initials: N
authors.lastname: Misovicová
authors.forename: E
authors.initials: E
authors.lastname: Marklová
authors.forename: L
authors.initials: L
authors.lastname: Vad'urová
authors.forename: A
authors.initials: A
authors.lastname: Pijácková
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D018153:Czech Republic / Q000453:epidemiology; D005260:Female; D006712:Homocystinuria / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology; D006801:Humans; D015994:Incidence; D008297:Male; D018154:Slovakia / Q000453:epidemiology