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Table 5 Characteristics of the entire group of MPS I patients, MPS I Hurler patients and non-Hurler patients at the time of diagnosis

From: Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications

Final diagnosis of MPS I
  All MPS I Hurler Non-Hurler
Number of patients 29 20 9
Age at diagnosis (months)
 Median 12 11 57
 Range 5 – 151 5 – 31 5 – 151
Delay medical specialist - diagnosis (months)    
 Median 9 8 28
 Range 1 – 147 1 – 24 2 – 147
Diagnosing specialist Nr. % Nr. % Nr. %
 General pediatrician 13 45% 10 50% 3 33%
 Clinical geneticist 4 14% 3 15% 1 11%
 Pediatrician specialized in IEM 9 31% 5 25% 4 44%
 Ophthalmologist 2 7% 2 10% 0 0%
 Rheumatologist 1 3% 0 0% 1 11%
  1. The sums of the percentages of each item may not equal 100% because the percentages represent rounded values. IEM: inborn errors of metabolism