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(E70.1) Other hyperphenylalaninaemias
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77 977 in individuals diagnosis other hyperphenylalaninaemias confirmed
1 374 deaths with diagnosis other hyperphenylalaninaemias
2% mortality rate associated with the disease other hyperphenylalaninaemias
Diagnosis other hyperphenylalaninaemias is diagnosed Men are 9.16% more likely than Women
42 558
Men receive the diagnosis other hyperphenylalaninaemias
794 (1.9 %)Died from this diagnosis.
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35 419
Women receive the diagnosis other hyperphenylalaninaemias
580 (1.6 %)Died from this diagnosis.
Risk Group for the Disease other hyperphenylalaninaemias - 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 hyperphenylalaninaemias
Absence or low individual and public risk
Other hyperphenylalaninaemias - what does this mean
Other hyperphenylalaninaemias are a group of rare inherited metabolic disorders caused by mutations in genes responsible for the production of the enzyme phenylalanine hydroxylase, which is responsible for the metabolism of the amino acid phenylalanine. this results in the accumulation of phenylalanine in the body, leading to an array of neurological and physical symptoms.
What happens during the disease - other hyperphenylalaninaemias
Other hyperphenylalaninaemias are a group of rare inherited disorders caused by a deficiency in the enzymes responsible for breaking down the amino acid phenylalanine. this leads to an accumulation of phenylalanine in the blood and tissues, resulting in a range of symptoms including intellectual disability, seizures, behavioural problems, and movement disorders. it can also lead to serious complications such as heart disease, liver disease, and eye problems.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Complete blood count (CBC)
- Blood chemistry tests
- Amino acid levels in the blood
- Urine tests
- Genetic testing
- Skin biopsy
- MRI Scan
- CT Scan
Treatment and Medical Assistance
Main goal of the treatment: Treating Other Hyperphenylalaninaemias
- Providing dietary restrictions to reduce phenylalanine levels
- Administering medications to reduce the blood phenylalanine level
- Providing supplements to replace essential amino acids
- Providing physical therapy to improve muscle function
- Providing psychological support to manage behavioural issues
- Providing genetic counselling to understand the disease
- Providing regular monitoring of blood phenylalanine levels
- Providing nutritional education to improve dietary habits
9 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Other hyperphenylalaninaemias - Prevention
Other hyperphenylalaninaemias can be prevented by avoiding exposure to environmental toxins, maintaining a healthy diet rich in essential nutrients, and avoiding certain drugs that can cause this condition. additionally, genetic counselling and prenatal screening can help to identify any potential risk factors and help to reduce the likelihood of this condition developing.