Carbohydrate-deficient glycoprotein syndromes: Peculiar group of new disorders
| Autor: | Bengt Hagberg, Bengt Kristiansson, Gösta Blennow, Helena Stibler |
|---|---|
| Rok vydání: | 1993 |
| Předmět: |
Adult
congenital hereditary and neonatal diseases and abnormalities Adolescent Eye disease Chromosome Disorders Genes Recessive Prenatal diagnosis Disease Biology Nervous System Developmental Neuroscience Pregnancy Intellectual Disability Prenatal Diagnosis medicine Humans Child Glycoproteins Chromosome Aberrations Neurologic Examination chemistry.chemical_classification Biologic marker Cerebellar ataxia Infant Newborn Transferrin Infant Syndrome medicine.disease Neurology chemistry Child Preschool Pediatrics Perinatology and Child Health Immunology Female Neurology (clinical) Carbohydrate deficient glycoprotein Nervous System Diseases medicine.symptom Glycoprotein Biomarkers |
| Zdroj: | Pediatric Neurology. 9:255-262 |
| ISSN: | 0887-8994 |
| Popis: | A new group of metabolic disorders, the carbohydrate-deficient glycoprotein (CDG) syndromes, is reviewed with emphasis on the key condition, the CDG syndrome type I. This disease, an autosomal-recessive multisystem condition, has now been diagnosed in 45 Scandinavian patients. It is characterized by carbohydrate deficiencies of a number of glycoproteins, including uniform changes in transferrin. The transferrin alterations provide a distinct biologic marker and a practical and simple laboratory diagnostic means employing analysis of serum or blood spots from Guthrie-type filter paper. The syndrome presents differently through various life periods. A four-stage grouping system by age has been constructed and is presented. During infancy, internal organ symptoms are dominant; some may be life-threatening. In later childhood and adolescence, static mental deficiency, cerebellar ataxia, slowly progressive lower limb neuropathy, and pigmentary retinal degeneration, as well as secondary skeletal deformities, are the most prominent findings. Two very recently described clinical and biologic variants, CDG syndromes II and III, are summarized and compared to CDG type I. |
| Databáze: | OpenAIRE |
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