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  • Title: Complex glycerol kinase deficiency leads to psychomotor and body-growth failure.
    Author: Zaffanello M, Zamboni G, Tonin P, Solero GP, Tatò L.
    Journal: J Paediatr Child Health; 2004 Apr; 40(4):237-40. PubMed ID: 15009558.
    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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