(E77.0) Defects in post-translational modification of lysosomal enzymes

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13 657 in individuals diagnosis defects in post-translational modification of lysosomal enzymes confirmed

3 852 deaths with diagnosis defects in post-translational modification of lysosomal enzymes

28% mortality rate associated with the disease defects in post-translational modification of lysosomal enzymes

Etiology Pathogenesis Clinical Pattern Diagnostics Treatment Prevention

Diagnosis defects in post-translational modification of lysosomal enzymes is diagnosed Women are 20.38% more likely than Men

5 437

Men receive the diagnosis defects in post-translational modification of lysosomal enzymes

1 899 (34.9 %)

Died from this diagnosis.

100

8 220

Women receive the diagnosis defects in post-translational modification of lysosomal enzymes

1 953 (23.8 %)

Died from this diagnosis.

Risk Group for the Disease defects in post-translational modification of lysosomal enzymes - 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 defects in post-translational modification of lysosomal enzymes

Absence or low individual and public risk

Defects in post-translational modification of lysosomal enzymes - what does this mean

Defects in post-translational modification of lysosomal enzymes occur when the proteins responsible for adding sugar molecules to lysosomal enzymes are absent or defective, leading to a lack of the enzymes needed to break down lipids, carbohydrates, and proteins in the lysosomes. this can lead to the accumulation of lipids and other substances in cells, causing a range of diseases.

What happens during the disease - defects in post-translational modification of lysosomal enzymes

Defects in post-translational modification of lysosomal enzymes can lead to an accumulation of undigested material in the lysosomes of cells, resulting in a lysosomal storage disorder. this can lead to a variety of symptoms, including neurological problems, skeletal abnormalities, and organ dysfunction. the accumulation of undigested material can also lead to an increase in inflammation and oxidative stress, further contributing to the severity of the disorder.

Clinical Pattern

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How does a doctor diagnose

Analysis of lysosomal enzyme activity
Assessment of lysosomal enzyme levels in the blood
Analysis of lysosomal enzyme post-translational modifications
Immunohistochemical staining of lysosomal enzymes
Western blot analysis of lysosomal enzymes
Fluorescence in situ hybridization (FISH) of lysosomal enzymes
RNA sequencing to identify changes in lysosomal enzyme gene expression
Genetic testing to identify mutations in lysosomal enzymes

Treatment and Medical Assistance

Main Goal of Treatment: To correct the defects in post-translational modification of lysosomal enzymes.

Administering medications to reduce inflammation and decrease the activity of enzymes.
Replacing defective enzymes with healthy ones.
Using gene therapy to introduce healthy enzymes into the body.
Using enzyme inhibitors to block the activity of defective enzymes.
Administering drugs to reduce the amount of enzymes produced by the body.
Using dietary supplements to provide the body with the necessary nutrients to help with enzyme production.
Administering medications to help with enzyme production.
Using physical therapy to strengthen muscles and improve mobility.
Using occupational therapy to help with daily activities.
Providing psychological support to help with stress management.

19 Days of Hospitalization Required

Average Time for Outpatient Care Not Established

Defects in post-translational modification of lysosomal enzymes - Prevention

The prevention of defects in post-translational modification of lysosomal enzymes can be achieved through a combination of lifestyle changes, such as eating a balanced diet, exercising regularly, and avoiding smoking and excessive alcohol consumption, as well as regular medical check-ups and monitoring. early detection and intervention can help to reduce the risk of developing this condition and its associated complications.

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