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(E77) Disorders of glycoprotein metabolism
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13 657 in individuals diagnosis disorders of glycoprotein metabolism confirmed
3 852 deaths with diagnosis disorders of glycoprotein metabolism
28% mortality rate associated with the disease disorders of glycoprotein metabolism
Diagnosis disorders of glycoprotein metabolism is diagnosed Women are 20.38% more likely than Men
5 437
Men receive the diagnosis disorders of glycoprotein metabolism
1 899 (34.9 %)Died from this diagnosis.
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8 220
Women receive the diagnosis disorders of glycoprotein metabolism
1 953 (23.8 %)Died from this diagnosis.
Risk Group for the Disease disorders of glycoprotein metabolism - Men aged 0-5 and Women aged 20-24
In Men diagnosis is most often set at age 0-9, 15-34, 40-44, 50-79, 85-89
Less common in men the disease occurs at Age 10-14, 35-39, 45-49, 80-84, 90-95+Less common in women the disease occurs at Age 10-14, 25-29, 50-54, 60-64, 75-79, 95+
In Women diagnosis is most often set at age 0-9, 15-24, 30-49, 55-59, 65-74, 80-94
Disease Features disorders of glycoprotein metabolism
Absence or low individual and public risk
Disorders of glycoprotein metabolism - what does this mean
Disorders of glycoprotein metabolism are caused by genetic mutations that impair the body's ability to produce, modify, or process glycoproteins. these mutations can lead to a wide range of medical conditions, including neurological disorders, metabolic disorders, and immunodeficiency disorders.
What happens during the disease - disorders of glycoprotein metabolism
Disorders of glycoprotein metabolism are caused by genetic mutations that lead to the development of abnormal glycoproteins. these mutations can lead to the accumulation of abnormal glycoproteins in the body, which can cause a variety of different symptoms, including impaired organ function, growth abnormalities, and neurological impairments. in some cases, these mutations can also lead to the development of autoimmune diseases.
Clinical Pattern
Disorders of glycoprotein metabolism are a group of rare genetic disorders characterized by abnormal levels of glycoproteins in the blood, which can lead to a variety of medical issues such as poor growth, developmental delays, and organ dysfunction. Common symptoms include weight loss, fatigue, and low blood sugar levels, as well as neurological complications such as seizures and learning disabilities. Treatment typically involves dietary modifications, enzyme replacement therapy, and medications to control symptoms.
How does a doctor diagnose
- Physical examination
- Laboratory tests (blood, urine, and stool tests)
- Genetic testing
- Imaging tests (CT scan, MRI, ultrasound)
- Liver biopsy
- Skin biopsy
- Urine organic acid analysis
- Amino acid analysis
- Enzyme analysis
- Glycoprotein analysis
Treatment and Medical Assistance
Main goal of the treatment: To restore the normal metabolism of glycoproteins
- Administering medications that reduce the accumulation of glycoproteins in the body
- Providing dietary interventions that reduce the amount of glycoproteins in the diet
- Providing nutritional supplements that help the body to break down and absorb glycoproteins
- Providing physical therapy and exercise to increase the body's ability to metabolize glycoproteins
- Monitoring the patient's progress and adjusting the treatment plan as needed
19 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Disorders of glycoprotein metabolism - Prevention
Prevention of disorders of glycoprotein metabolism can be achieved through a healthy lifestyle, including a balanced diet low in sugar, regular exercise, and avoiding excessive alcohol consumption. additionally, regular monitoring of glycoprotein levels is important to ensure early detection and treatment of any potential issues.