DocSym
β
Searchsearch
Search
(E71.2) Disorder of branched-chain amino-acid metabolism, unspecified
More details coming soon
44 219 in individuals diagnosis disorder of branched-chain amino-acid metabolism, unspecified confirmed
3 231 deaths with diagnosis disorder of branched-chain amino-acid metabolism, unspecified
7% mortality rate associated with the disease disorder of branched-chain amino-acid metabolism, unspecified
Diagnosis disorder of branched-chain amino-acid metabolism, unspecified is diagnosed Men are 10.59% more likely than Women
24 451
Men receive the diagnosis disorder of branched-chain amino-acid metabolism, unspecified
1 825 (7.5 %)Died from this diagnosis.
100
95
90
85
80
75
70
65
60
55
50
45
40
35
30
25
20
15
10
5
0
19 768
Women receive the diagnosis disorder of branched-chain amino-acid metabolism, unspecified
1 406 (7.1 %)Died from this diagnosis.
Risk Group for the Disease disorder of branched-chain amino-acid metabolism, unspecified - 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 disorder of branched-chain amino-acid metabolism, unspecified
Absence or low individual and public risk
Disorder of branched-chain amino-acid metabolism, unspecified - what does this mean
Disorder of branched-chain amino-acid metabolism, unspecified is a condition caused by an inability of the body to metabolize branched-chain amino acids (bcaas) properly. this can lead to an accumulation of bcaas in the blood, which can cause a variety of symptoms and complications, including muscle pain and weakness, fatigue, and neurological problems.
What happens during the disease - disorder of branched-chain amino-acid metabolism, unspecified
Disorder of branched-chain amino-acid metabolism, unspecified is caused by a disruption in the body's ability to break down and utilize branched-chain amino acids. this can be caused by a genetic mutation, an enzyme deficiency, or a disruption in the metabolic pathways that process these amino acids. as a result, the body is unable to properly utilize the essential nutrients found in branched-chain amino acids, leading to a variety of symptoms and complications.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Physical examination
- Blood tests to measure levels of amino acids and other metabolites
- Urine tests to measure levels of amino acids and other metabolites
- Genetic testing to identify mutations in the genes involved in branched-chain amino-acid metabolism
- Imaging tests to look for any abnormalities in the organs involved in branched-chain amino-acid metabolism
- Liver biopsy to assess the function of the liver in branched-chain amino-acid metabolism
- Stool tests to measure levels of branched-chain amino acids
- Other tests to assess the function of the organs involved in branched-chain amino-acid metabolism
Treatment and Medical Assistance
Main goal of the treatment: To reduce the symptoms of disorder of branched-chain amino-acid metabolism, unspecified.
- Monitoring of blood levels of branched-chain amino acids
- Dietary modifications to reduce intake of branched-chain amino acids
- Administration of medical foods containing branched-chain amino acids
- Administration of vitamins and minerals to support metabolism of branched-chain amino acids
- Administration of medications to support metabolism of branched-chain amino acids
- Regular physical activity to reduce symptoms
- Regular monitoring of liver and kidney function
14 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Disorder of branched-chain amino-acid metabolism, unspecified - Prevention
Preventing disorder of branched-chain amino-acid metabolism, unspecified can be done by maintaining a balanced diet that includes adequate amounts of branched-chain amino acids, as well as avoiding processed foods and limiting alcohol consumption. additionally, regular exercise and stress management can help to reduce the risk of developing this disorder.