title: Retinitis pigmentosa in mevalonate kinase deficiency.
abstract: Retinitis pigmentosa can occur as a complication of mevalonate kinase deficiency. This may be due to the unique isoprenoid metabolism in the retina. Early detection requires awareness on the part of the treating physician.
authors.affiliation: General Paediatrics, University Medical Center Utrecht, WKZ room KE 04 1331, Lundlaan 6, Utrecht, 3584A EA, The Netherlands.
authors.forename: B
authors.initials: B
authors.lastname: Balgobind
authors.forename: D
authors.initials: D
authors.lastname: Wittebol-Post
authors.forename: J
authors.initials: J
authors.lastname: Frenkel
mesh_terms: D002675:Child, Preschool; D004596:Electroretinography; D006801:Humans; D007249:Inflammation; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis*; D010641:Phenotype; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000172:deficiency*; D010857:Pigment Epithelium of Eye / Q000378:metabolism; D012160:Retina / Q000378:metabolism; D012174:Retinitis Pigmentosa / Q000150:complications*; D013997:Time Factors
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase