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(E74.4) Disorders of pyruvate metabolism and gluconeogenesis
More details coming soon
166 670 in individuals diagnosis disorders of pyruvate metabolism and gluconeogenesis confirmed
3 882 deaths with diagnosis disorders of pyruvate metabolism and gluconeogenesis
2% mortality rate associated with the disease disorders of pyruvate metabolism and gluconeogenesis
Diagnosis disorders of pyruvate metabolism and gluconeogenesis is diagnosed Women are 9.03% more likely than Men
75 812
Men receive the diagnosis disorders of pyruvate metabolism and gluconeogenesis
2 058 (2.7 %)Died from this diagnosis.
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90 858
Women receive the diagnosis disorders of pyruvate metabolism and gluconeogenesis
1 824 (2.0 %)Died from this diagnosis.
Risk Group for the Disease disorders of pyruvate metabolism and gluconeogenesis - Men aged 10-14 and Women aged 15-19
In Men diagnosis is most often set at age 0-89
Less common in men the disease occurs at Age 90-95+Less common in women the disease occurs at Age 95+
In Women diagnosis is most often set at age 0-94
Disease Features disorders of pyruvate metabolism and gluconeogenesis
Absence or low individual and public risk
Disorders of pyruvate metabolism and gluconeogenesis - what does this mean
Disorders of pyruvate metabolism and gluconeogenesis occur when there is a disruption in the metabolic pathways that are responsible for the breakdown and synthesis of glucose. this can be caused by genetic mutations, enzyme deficiencies, or a lack of nutrients. symptoms can include fatigue, muscle weakness, and an inability to break down and use carbohydrates for energy.
What happens during the disease - disorders of pyruvate metabolism and gluconeogenesis
Pyruvate metabolism and gluconeogenesis disorders are caused by genetic mutations in enzymes that are involved in the metabolism of pyruvate and the production of glucose. these mutations can lead to an accumulation of pyruvate in the body and a decrease in the production of glucose, resulting in symptoms such as hypoglycemia, lactic acidosis, and neurological impairment.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Serum biochemistry tests to measure levels of pyruvate, glucose, lactate, and other metabolites
- Urine tests to measure levels of pyruvate, glucose, and other metabolites
- Genetic testing to identify mutations in genes involved in pyruvate metabolism and gluconeogenesis
- Imaging tests, such as MRI or CT scans, to look for signs of metabolic disorders
- Liver biopsy to measure levels of pyruvate and other metabolites
- Endocrine tests to measure levels of hormones involved in pyruvate metabolism and gluconeogenesis
- Enzyme activity tests to measure levels of enzymes involved in pyruvate metabolism and gluconeogenesis
Treatment and Medical Assistance
Main goal: To treat disorders of pyruvate metabolism and gluconeogenesis
- Prescribe medications to reduce symptoms and improve metabolic processes
- Perform genetic testing to identify the underlying disorder
- Provide dietary and lifestyle recommendations to reduce symptoms
- Administer vitamin and mineral supplements to support metabolic processes
- Monitor and adjust medication dosages as needed
- Refer to specialists for further evaluation and treatment
- Provide counseling and support to help patients cope with the disorder
9 Days of Hospitalization Required
30 Hours Required for Outpatient Treatment
Disorders of pyruvate metabolism and gluconeogenesis - Prevention
The best way to prevent disorders of pyruvate metabolism and gluconeogenesis is to maintain a healthy diet and lifestyle. eating a balanced diet with plenty of fruits, vegetables, and whole grains, as well as limiting processed and sugary foods, can help to reduce the risk of developing these disorders. additionally, regular physical activity can help to keep metabolism and glucose levels in check. finally, avoiding smoking and limiting alcohol consumption can also help to reduce the risk of developing these disorders.