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An inborn error of metabolism, homocystinuria due to cystathionine beta-synthase deficiency, results in markedly elevated levels of circulating homocysteine. Premature vascular events are the main life-threatening complication. Half of all untreated patients have a vascular event by 30 years of age. We performed a multicenter observational study to assess(More)
Homocystinuria (HCU) due to cystathionine beta-synthase (CBS) deficiency leads to severe hyperhomocysteinemia (HHcy). Vascular events (VE) remain the major cause of morbidity and mortality in the untreated patients with HCU. The study on the natural history of untreated HCU disclosed that, at the time of maximal risk, in other words beyond 10 years old,(More)
Newborn screening for cystathionine β-synthase deficiency (homocystinuria; HCU) was started in the late 1960 s using a bacterial inhibition assay (BIA). At least seven countries have either national or regional screening programmes; 12 programmes are known to have discontinued. The worldwide incidence of HCU is approximately 1 in 335,000 but varies from 1 :(More)
Homocystinuria (HCU) due to cystathionine β-synthase deficiency (Mudd et al 1964) was independently described by Gerritsen and colleagues (USA) and Carson and colleagues (Northern Ireland) in 1962. The worldwide frequency of HCU has been reported as 1 in 344 000, while that in Ireland is much higher at 1 in 65 000, based on newborn screening and cases(More)
  • Sufin Yap
  • Journal of Inherited Metabolic Disease
  • 2003
Summary. Homocystinuria due to cystathionine β-synthase deficiency is the second most treatable aminoacidopathy. The reported incidence varies from 1 in 344 000 worldwide to 1 in 65 000 in Ireland. Untreated patients with homocystinuria have severe hyperhomocysteinaemia. Amongst its pathological sequelae, which include mental retardation, ectopia lentis and(More)
The pathological sequelae of untreated homocystinuria due to cystathionine β-synthase deficiency include ectopia lentis, osteoporosis, thromboembolic events and mental retardation. They occur at a significantly higher rate with poorer mental capabilities (mean IQ = 57) in the untreated pyridoxine-nonresponsive individuals. The mental capabilities of 23(More)
INTRODUCTION Untreated homocystinuria (HCU) leads to systemic and ocular complications preventable by early treatment. METHODS This study describes the ocular features in HCU patients who had late diagnosis or were noncompliant with treatment compared with a control group of early-diagnosed and well-controlled subjects. RESULTS Fourteen late-diagnosed(More)
Inherited 5-oxoprolinase (OPLAH) deficiency is a rare inborn condition characterised by 5-oxoprolinuria. To date, three OPLAH mutations have been described: p.H870Pfs in a homozygous state, which results in a truncated protein, was reported in two siblings, and two heterozygous missense changes, p.S323R and p.V1089I, were independently identified in two(More)
Homozygosity or compound heterozygosity for the c.833T>C transition (p.I278 T) in the cystathionine beta-synthase (CBS) gene represents the most common cause of pyridoxine-responsive homocystinuria in Western Eurasians. However, the frequency of the pathogenic c.833C allele, as observed in healthy newborns from several European countries (q(c.833C)(More)