Retinitis pigmentosa in mevalonate kinase deficiency.
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.
Balgobind
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General Paediatrics, University Medical Center Utrecht, WKZ room KE 04 1331, Lundlaan 6, Utrecht, 3584A EA, The Netherlands.
Wittebol-Post
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Frenkel
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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
D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase