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(E70.8) Other disorders of aromatic amino-acid metabolism
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77 977 in individuals diagnosis other disorders of aromatic amino-acid metabolism confirmed
1 374 deaths with diagnosis other disorders of aromatic amino-acid metabolism
2% mortality rate associated with the disease other disorders of aromatic amino-acid metabolism
Diagnosis other disorders of aromatic amino-acid metabolism is diagnosed Men are 9.16% more likely than Women
42 558
Men receive the diagnosis other disorders of aromatic amino-acid metabolism
794 (1.9 %)Died from this diagnosis.
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35 419
Women receive the diagnosis other disorders of aromatic amino-acid metabolism
580 (1.6 %)Died from this diagnosis.
Risk Group for the Disease other disorders of aromatic amino-acid metabolism - Men and Women aged 0
In Men diagnosis is most often set at age 0-29, 35-44, 55-74, 80-84, 90-94
Less common in men the disease occurs at Age 30-34, 45-54, 75-79, 85-89, 95+Less common in women the disease occurs at Age 45-49, 60-64, 75-79, 95+
In Women diagnosis is most often set at age 0-44, 50-59, 65-74, 80-94
Disease Features other disorders of aromatic amino-acid metabolism
Absence or low individual and public risk
Other disorders of aromatic amino-acid metabolism - what does this mean
Other disorders of aromatic amino-acid metabolism are caused by mutations in the enzymes involved in the metabolism of aromatic amino acids, such as phenylalanine, tyrosine and tryptophan. these mutations can lead to a build-up of toxic metabolites and cause a wide range of symptoms, including intellectual disability, seizures, movement disorders and behavioural problems.
What happens during the disease - other disorders of aromatic amino-acid metabolism
Other disorders of aromatic amino-acid metabolism are caused by a deficiency of enzymes that are involved in the metabolism of aromatic amino acids. these enzymes are responsible for breaking down the aromatic amino acids into their respective metabolites, which are then used to create proteins and other essential molecules. when the enzymes are deficient, the aromatic amino acids build up in the body, leading to a variety of symptoms, including mental retardation, seizures, and neurological and motor skill impairments.
Clinical Pattern
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How does a doctor diagnose
- Blood tests to check for levels of amino acids
- Urine tests to check for abnormal levels of metabolites
- Genetic testing to identify mutations in genes involved in aromatic amino-acid metabolism
- Imaging tests such as MRI or CT scans to identify structural changes in the brain
- Neuropsychological testing to assess cognitive and behavioral changes
- Biochemical tests to measure enzyme activities
- Liver biopsy to assess the degree of liver damage
Treatment and Medical Assistance
Main goal of the treatment: To reduce the symptoms of Other disorders of aromatic amino-acid metabolism.
- Prescription of medications to reduce symptoms
- Regular monitoring of patient's health status
- Dietary changes to reduce symptoms
- Regular physical activity to improve overall health
- Counseling and support to help manage psychological stress
- Monitoring of blood and urine levels of aromatic amino acids
- Regular monitoring of liver and kidney function tests
9 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Other disorders of aromatic amino-acid metabolism - Prevention
Prevention of other disorders of aromatic amino-acid metabolism includes avoiding exposure to environmental toxins, eating a balanced diet rich in protein and essential amino acids, and getting regular medical check-ups to monitor for early signs of the disorder.