METABOLIC AND ENDOCRINE DISORDERS IN CARBOHYDRATE DEFICIENT GLYCOPROTEIN SYNDROME

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: