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(E71.1) Other disorders of branched-chain amino-acid metabolism
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44 219 in individuals diagnosis other disorders of branched-chain amino-acid metabolism confirmed
3 231 deaths with diagnosis other disorders of branched-chain amino-acid metabolism
7% mortality rate associated with the disease other disorders of branched-chain amino-acid metabolism
Diagnosis other disorders of branched-chain amino-acid metabolism is diagnosed Men are 10.59% more likely than Women
24 451
Men receive the diagnosis other disorders of branched-chain amino-acid metabolism
1 825 (7.5 %)Died from this diagnosis.
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19 768
Women receive the diagnosis other disorders of branched-chain amino-acid metabolism
1 406 (7.1 %)Died from this diagnosis.
Risk Group for the Disease other disorders of branched-chain amino-acid metabolism - Men and Women aged 0-5
In Men diagnosis is most often set at age 0-39, 45-64
Less common in men the disease occurs at Age 40-44, 65-95+Less common in women the disease occurs at Age 30-95+
In Women diagnosis is most often set at age 0-29
Disease Features other disorders of branched-chain amino-acid metabolism
Absence or low individual and public risk
Other disorders of branched-chain amino-acid metabolism - what does this mean
Other disorders of branched-chain amino-acid metabolism occur when the body is unable to metabolize the branched-chain amino acids, which are essential for normal functioning. this can be caused by genetic mutations, which result in an enzyme deficiency or disruption of the metabolic pathway. symptoms can include poor growth, intellectual disability, seizures, and movement disorders.
What happens during the disease - other disorders of branched-chain amino-acid metabolism
Other disorders of branched-chain amino-acid metabolism are caused by genetic mutations that affect the enzymes responsible for the metabolism of the branched-chain amino acids leucine, isoleucine, and valine. these mutations lead to an accumulation of these amino acids in the body, which can cause a variety of neurological and metabolic problems. these disorders can be inherited or acquired, and can range from mild to severe.
Clinical Pattern
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How does a doctor diagnose
- Blood tests to measure levels of branched-chain amino acids
- Urine tests to measure levels of branched-chain keto acids
- Genetic tests to identify mutations in the genes responsible for the disorder
- Imaging studies to look for signs of organ damage
- Liver biopsy to look for signs of liver damage
- Muscle biopsy to look for signs of muscle damage
- Neurological examination to look for signs of nerve damage
- Cardiac evaluation to look for signs of heart damage
Treatment and Medical Assistance
Main Goal of the Treatment: To reduce the symptoms of Other Disorders of Branched-Chain Amino-Acid Metabolism
- Educate the patient on the disorder and available treatments
- Prescribe a diet low in branched-chain amino acids
- Prescribe medication to reduce the symptoms
- Perform regular blood tests to monitor the patient's progress
- Provide regular counseling sessions to the patient and their family
- Refer the patient to a specialist for further treatment if necessary
14 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Other disorders of branched-chain amino-acid metabolism - Prevention
The best way to prevent other disorders of branched-chain amino-acid metabolism is to maintain a healthy diet and lifestyle. eating a balanced diet with adequate amounts of essential amino acids, such as leucine, isoleucine, and valine, can help to prevent the development of these disorders. additionally, regular exercise and avoiding certain drugs, such as alcohol, can help to reduce the risk of these disorders.