The frequency of lysosomal storage diseases in The Netherlands

Abstract

We have calculated the relative frequency and the birth prevalence of lysosomal storage diseases (LSDs) in The Netherlands based on all 963 enzymatically confirmed cases diagnosed during the period 1970-1996. The combined birth prevalence for all LSDs is 14 per 100,000 live births. Glycogenosis type II is the most frequent LSD with a birth prevalence of 2.0 per 100,000 live births, representing 17% of all diagnosed cases. Within the group of lipidoses, metachromatic leukodystrophy (MLD) is the most frequent LSD. MLD was diagnosed in 24% of lipidoses and the calculated birth prevalence was 1.42 per 100,000 for all types combined. Krabbe disease, diagnosed in 17% of cases, also belongs to the more frequent lipid storage diseases in The Netherlands with a birth prevalence of 1.35 per 100,000. The birth prevalence of Gaucher disease, commonly regarded as the most frequent lipid storage disease is 1.16 per 100,000 for all types combined. The combined birth prevalence for all lipid storage diseases is 6.2 per 100,000 live births. Within the group of mucopolysaccharidoses (MPSs), MPS I has the highest calculated birth prevalence of 1.19 per 100,000 (25% of all cases of MPS diagnosed), which is slightly more frequent than MPS IIIA with an estimated birth prevalence of 1.16 per 100,000. As a group, MPS III comprises 47% of all MPS cases diagnosed and the combined birth prevalence is 1.89 per 100,000 live births. The birth prevalence of MPS II is 0.67 per 100,000 (1.30 per 100,000 male live births). All other MPSs are rare. The combined birth prevalence for all MPSs is 4.5 per 100,000 live births. Mucolipidoses and oligosaccharidoses are very rare with birth prevalences between 0.04 and 0.20 for individual diseases. Only 49 cases were diagnosed between 1970 and 1996. Their combined birth prevalence is 1.0 per 100,000 live births.

Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up

“…3.2.1.22). The estimated birth prevalence has originally been reported to be between 1:40.000 and 170.000 (Meikle et al 1999;Poorthuis et al 1999;Desnick et al 2007). More than 600 variants/mutations in the a-galactosidase A (GLA) gene have been described (Garman 2007;HGMD 2014), most of which are private variants/mutations.…”

A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus

“…Discussion b-Mannosidosis is an extremely uncommon lysosomal storage disease with an estimated incidence of 0.1 per 100,000 (Poorthuis et al 1999;Poupetova et al 2010). It results from a deficiency in the activity of the lysosomal enzyme b-mannosidase which cleaves the unique b(1-4)-linked mannose sugar found in all N-linked oligosaccharides of glycoproteins (Thomas 2001).…”

Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux–Lamy Syndrome

“…Estimates of MPS VI incidence range from 1 in 238,095 to 1 in 1,300,000 in the Netherlands (Poorthuis et al 1999); even higher rates have been reported in Portugal and Brazil (Valayannopoulos et al 2010). This lysosomal disorder, caused by a deficiency in the enzyme N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ASB; EC 3.1.6.12), is a result of mutations in the arylsulfatase B gene (ASB) located on chromosome 5 (5q13-5q14) (Litjens et al 1989).…”