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(E70.2) Disorders of tyrosine metabolism
More details coming soon
77 977 in individuals diagnosis disorders of tyrosine metabolism confirmed
1 374 deaths with diagnosis disorders of tyrosine metabolism
2% mortality rate associated with the disease disorders of tyrosine metabolism
Diagnosis disorders of tyrosine metabolism is diagnosed Men are 9.16% more likely than Women
42 558
Men receive the diagnosis disorders of tyrosine metabolism
794 (1.9 %)Died from this diagnosis.
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35 419
Women receive the diagnosis disorders of tyrosine metabolism
580 (1.6 %)Died from this diagnosis.
Risk Group for the Disease disorders of tyrosine 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 disorders of tyrosine metabolism
Absence or low individual and public risk
Disorders of tyrosine metabolism - what does this mean
Disorders of tyrosine metabolism are caused by mutations in genes that are responsible for the production of enzymes that break down the amino acid tyrosine. these mutations can lead to a build-up of tyrosine in the body, which can affect the nervous system, skin, and other organs. symptoms may include seizures, mental retardation, skin discoloration, and other problems.
What happens during the disease - disorders of tyrosine metabolism
Disorders of tyrosine metabolism are caused by genetic mutations that affect the enzymes involved in tyrosine metabolism, leading to a build-up of tyrosine in the body or a deficiency of tyrosine-derived molecules. this can lead to a variety of symptoms, including mental retardation, seizures, and skin disorders. in some cases, these disorders can be fatal.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Blood tests for amino acids and metabolites
- Urine tests for amino acids and metabolites
- Genetic testing for mutations in the TYR gene
- Imaging tests to look for signs of organ damage
- Liver biopsy to look for signs of organ damage
- Neuropsychological testing to assess cognitive function
- Skin biopsy to look for signs of abnormal pigmentation
Treatment and Medical Assistance
Main goal of the treatment: To reduce the symptoms of Disorders of tyrosine metabolism.
- Regular monitoring of tyrosine levels in the blood.
- Dietary modifications to reduce tyrosine intake.
- Medications to reduce tyrosine production.
- Vitamin and mineral supplements to support healthy metabolism.
- Physical therapy to reduce muscle weakness.
- Regular exercise to improve overall health.
- Counseling and lifestyle modifications to reduce stress.
9 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Disorders of tyrosine metabolism - Prevention
The best way to prevent disorders of tyrosine metabolism is to maintain a healthy diet rich in tyrosine, as well as other essential amino acids. avoiding environmental toxins and following a regular exercise routine can also help to prevent this disorder. additionally, regular check-ups with a doctor can help to identify any potential issues early on and take the necessary steps to prevent further complications.