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Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay.
  1. A C Hutchesson,
  2. R G Gray,
  3. D A Spencer,
  4. G Keir
  1. Birmingham Children's Hospital, Department of Clinical Chemistry.


    A 3 week old boy presented with abnormal thyroid function, and was treated with thyroxine. He developed multisystem disease including deafness and nephrotic syndrome, and died aged 3 months. Carbohydrate deficient glycoprotein syndrome (CDGS) was diagnosed post-mortem. CDGS should be considered in all infants with apparently unrelated multiple clinical or biochemical abnormalities.

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