Complex glycerol kinase deficiency leads to psychomotor and body-growth failure |
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Authors: | Zaffanello M Zamboni G Tonin P Solero G P Tatò L |
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Institution: | Regional Centre of Neonatal Screening, Department of Paediatrics, University of Verona, Verona, Italy. marco.zaffanello@univr.it |
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Abstract: | Complex glycerol kinase deficiency usually presents with Duchenne muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenital. We describe a follow-up patient with complex glycerol kinase deficiency who had appropriate intrauterine development, but who at 1 month of age manifested severe growth delay and psychomotor retardation. Targeted therapy did not bring about the regression of symptoms: both bodyweight and height were below the 3rd centile until 8 years of age, and his Griffith's Mental Development scale score was 71 at age 5 years. |
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Keywords: | body growth complex glycerol kinase deficiency contiguous gene syndrome psychomotor development |
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