Author information: Congenital disorders of glycosylation CDG are a group of metabolic disorders resulting from defective synthesis of N-linked oligosaccharides.
CDG-Ia is the most common of the 21 known types defined by defects cdg adult different steps of the synthetic pathway. An increasing number of American adults with CDG-Ia are being cdg adult but little is documented adhlt the morbidity and mortality in this population.
These adults have moderate mental retardation, ataxia, retinitis pigmentosa, peripheral neuropathy, kyphoscoliosis, and endocrinopathies.
Four adults with CDG-Ia, ages cdg adult old are presented.
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All are active, dysarthric cdg adult adults with moderate cognitive impairment. They are ataxic and wheelchair dependent, however, only the oldest man shows significant asult atrophy.
All have diagnosed peripheral neuropathy. Three of four remain on anticonvulsants with only occasional seizures, none have had stroke-like episodes since their cdg adult years.
Their skeletal issues include significant kyphoscoliosis, joint contractures, and osteopenia. Retinitis pigmentosa and myopia complicate their functional vision.
The women do cdg adult menstruate and the men have small testes resulting from hypogonadotropic hypogonadism. Documentation of clinical complications and successful adjlt strategies in adults with CDG will improve their quality of life and allow more informed prognostic discussions with families of younger affected cdg adult.