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Table 1 Patient characteristics

From: Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction

  N Median (IQR); mean ± SD
Patient age at the time of the survey
 Age of all patients 138 18 years (6–38); 22.7 ± 18
  Number of paediatric patients (≤ 18 years) 69  
  Age of patients identified by newborn screening 29 4 years (2–22); 11.5 ± 13.2
  Age of clinically ascertained patients 76 21 years (10–38); 24.8 ± 17.3
  N %
Participants 143  
 Male 60 42
 Female 81 56.6
 No information provided 2 1.4
Informants
 Caregivers 82 57.3
 Adult patients (> 18 years) 55 38.5
 Adolescent patients (< 18 years) 2 1.4
 Health professionals 3 2.1
 No information provided 1 0.7
Countries of origin 141  
 USA 46 32.6
 Czech Republic 20 14.2
 United Kingdom 19 13.5
 Australia 17 12.1
 Ireland 8 5.7
 Germany 6 4.3
 Other European countries 9 6.5
 South America 4 2.8
 Asia 4 2.8
 Canada 4 2.8
 Africa 2 1.4
 New Zealand 2 1.4
Diagnosis 142  
   Cystathionine beta-synthase (CBS) deficiency 110 77.5
  Pyridoxine nonresponsive 62  
   Diagnosed by newborn screening 21  
  Partially pyridoxine responsive 8  
   Diagnosed by newborn screening 1  
  Pyridoxine responsive 28  
   Diagnosed by newborn screening  
  Unsure of responsiveness 12  
   Diagnosed by newborn screening 2  
 Remethylation defects (RMD) 24 16.9
  cblC 10  
   Diagnosed by newborn screening 4  
  MTHFR deficiency 7  
   Diagnosed by newborn screening  
  cblE 3  
   Diagnosed by newborn screening  
  cblG 3  
   Diagnosed by newborn screening  
cblF 1-  
Diagnosed by newborn screening  
 Unsure of diagnosis 8 5.6
  Diagnosed by newborn screening 1  
  1. Cbl, cobalamin; IQR, interquartile range; MTHFR, methylenetetrahydrofolate reductase; SD, standard deviation