Abstract
Carbohydrate-deficient glycoprotein syndrome [CDGS] was recently described and includes acquired microcephaly, developmental delay, olivopontocerebellar atrophy, congenital hypotonia, progressive peripheral neuropathy and retinal degeneration, failure to thrive, hepatic steatosis, skeletal abnormalities and lipodystrophy. Secretory glycoproteins are deficient in carbohydrate moities; elevated levels of disialotransferrin and asialotransferrin are diagnostic. Three patients with this condition manifest the following metabolic and endocrine disorders: Conclusions:(1) Mild primary hypothyroidism occures in CDGS; (2) TBG throxine binding is low in CDGS; (3) Cortisol levels may be low in CDGS, possibly from lowered affinity of cortisol binding protein; (4) Cholesterol levels are low in CDGS, possibly because of increased hepatic removal.
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