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(E72.5) Disorders of glycine metabolism
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49 396 in individuals diagnosis disorders of glycine metabolism confirmed
7 156 deaths with diagnosis disorders of glycine metabolism
15% mortality rate associated with the disease disorders of glycine metabolism
Diagnosis disorders of glycine metabolism is diagnosed Women are 6.86% more likely than Men
23 003
Men receive the diagnosis disorders of glycine metabolism
3 532 (15.4 %)Died from this diagnosis.
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26 393
Women receive the diagnosis disorders of glycine metabolism
3 624 (13.7 %)Died from this diagnosis.
Risk Group for the Disease disorders of glycine metabolism - Men and Women aged 0-5
In Men diagnosis is most often set at age 0-14, 20-24, 30-79
Less common in men the disease occurs at Age 15-19, 25-29, 80-95+Less common in women the disease occurs at Age 80-95+
In Women diagnosis is most often set at age 0-79
Disease Features disorders of glycine metabolism
Absence or low individual and public risk
Disorders of glycine metabolism - what does this mean
Disorders of glycine metabolism occur when there is a defect in the enzymes responsible for the breakdown of glycine, resulting in the accumulation of toxic metabolites in the body. these can lead to a variety of symptoms, including seizures, developmental delay, movement disorders, and intellectual disability.
What happens during the disease - disorders of glycine metabolism
Disorders of glycine metabolism occur when the body is unable to properly break down glycine, a type of amino acid. this can be caused by a deficiency in enzymes that are responsible for breaking down glycine, or by an accumulation of glycine in the body due to an inability to excrete it. the accumulation of glycine can lead to a variety of symptoms, including seizures, developmental delays, movement disorders, and intellectual disability.
Clinical Pattern
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How does a doctor diagnose
- Urine analysis to measure glycine levels
- Blood tests to measure glycine levels
- Genetic testing to identify mutations in genes associated with glycine metabolism
- Amino acid analysis to measure levels of other amino acids
- Brain imaging to look for signs of glycine accumulation
- Liver function tests to assess the health of the liver
- Kidney function tests to assess the health of the kidneys
Treatment and Medical Assistance
Main Goal: To improve the metabolism of glycine in order to reduce the symptoms of the disorder.
- Increase dietary intake of glycine-rich foods
- Administer glycine supplements
- Prescribe medications to reduce the symptoms of the disorder
- Encourage regular physical activity
- Provide counseling and support to help manage stress
- Educate patients and families on the importance of a healthy diet
- Monitor blood levels of glycine and other amino acids regularly
- Refer to a specialist if necessary
16 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Disorders of glycine metabolism - Prevention
The best way to prevent disorders of glycine metabolism is to maintain a healthy diet, including foods that are high in glycine, such as fish, eggs, soybeans, and legumes. additionally, regular exercise and adequate sleep can help to keep glycine levels in balance. finally, it is important to avoid excessive alcohol consumption, as this can impair the body's ability to metabolize glycine.