Mucopolysacchardosis Type I in Western Libya Experience of Tripoli Children Hospital

الملخص

Mucoplosacchardosis type 1 is a genetic metabolic disease caused by deficiency in alphaidournidase enzyme, it
manifested mainly in 3 forms, Hurler, Hurler-Scheie, and Scheie types according to the degree of enzyme deficiency.
In Libya the actual incidence of type 1 is not known exactly. The aim of this study is to describe the clinical profile
of type 1 Mucopolysacchardosis and to discuss the problems encountered in identifying and diagnosing these patients. 13 patients were seen at Metabolic Clinic diagnosed as type 1 Mucopolysacchardosis were included in this
study and data were taken from their medical files.
13 patients confirmed type 1, 85% of them have normal IQ, 61% have history of developmental delay and all have
repeated respiratory problems, hepatosplenomegaly and umbilical hernia, joint involvement is an early finding.
Corneal opacity was seen in96% of the patientsand 75% have heart problems mainly in Mitral and Aortic valves.
Mucopolysacchardosis Scheie type is the most common in our patients, delay in diagnosis mainly due to absence of
facial coarseness and lack of awareness among Pediatrician and unavailability of laboratory investigations.