Congenital glycosylation disorder is an inherited condition affecting the way sugar chains attach to proteins, with 19 identified syndromes and varying symptoms. Treatment involves supportive care, and diagnosis is made through blood tests and enzyme activity evaluation. Symptoms range from stunted growth to muscle impairment and vision problems.
Congenital glycosylation disorder is an inherited condition that involves a disruption in the way sugar chains form or attach to proteins. These congenital disorders can affect patients ranging from infancy to adulthood. Researchers have identified 19 separate syndromes, each with distinct genetic abnormalities and different symptoms. Treatment generally involves supportive care, depending on the patient’s age and presenting symptoms.
Glycosylation is the process of building long-chain sugars that attach to proteins, forming glycoproteins. Dozens of enzymes are responsible for this process. When enzymes malfunction due to a genetic defect, these chains are not properly completed, attached to proteins or removed when needed. The abnormality occurs in the N-linked oligosaccharide, which involves every body cell. Symptoms related to congenital glycosylation disorder depend on which body systems are affected by protein instability and miscommunication within and between cells.
Infants and children with versions of the disorder generally grow and develop more slowly than other children of the same age due to an inability to feed themselves. Children may have hypoglycemia along with gastrointestinal disturbances including liver disease. Pediatric patients may bleed easily and have cross-eyed eyes and poor motor development caused by muscle weakness. Young people may develop spastic or tremor-like movements. These patients may develop seizures, stroke-like symptoms, or the onset of mental disability.
Adolescents and adults with congenital glycosylation disorder may have difficulties with balance, physical movement, and speech that are secondary to muscle impairment. The abnormal glycosylation process can inhibit puberty in young female patients and patients can develop retinitis pigmentosa or suffer from spinal curvature that progresses over time.
Individuals who experience symptoms typically have a blood test called a carbohydrate-deficient transferrin. This test assesses the glycosylation status of transferrin (TF). Using isoelectric focusing or electrospray ionization mass spectrometry, laboratory specialists identify abnormal TF patterns. After receiving a definitive diagnosis of congenital glycosylation disorder, patients undergo further tests that determine the specific type. Typing the disorder generally involves evaluating enzyme activity for known defects or testing blood samples for specific genetic mutations.
Infants and children with stunted growth syndromes may require high-calorie formulas. When the condition affects the ability to consume food by mouth, gastric feeding tubes may be needed. Patients suffering from hypothyroidism secondary to the disorder usually receive replacement medications. Individuals who develop seizure disorders usually require anticonvulsant medications, and patients with muscle motor, speech, or vision impairments typically require occupational and physical therapy.
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