DocSym
β
Searchsearch
Search
(E70.0) Classical phenylketonuria
More details coming soon
77 977 in individuals diagnosis classical phenylketonuria confirmed
1 374 deaths with diagnosis classical phenylketonuria
2% mortality rate associated with the disease classical phenylketonuria
Diagnosis classical phenylketonuria is diagnosed Men are 9.16% more likely than Women
42 558
Men receive the diagnosis classical phenylketonuria
794 (1.9 %)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
35 419
Women receive the diagnosis classical phenylketonuria
580 (1.6 %)Died from this diagnosis.
Risk Group for the Disease classical phenylketonuria - 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 classical phenylketonuria
Absence or low individual and public risk
Classical phenylketonuria - what does this mean
Classical phenylketonuria (pku) is an inherited disorder caused by a deficiency of the enzyme phenylalanine hydroxylase, which results in the buildup of the amino acid phenylalanine in the body. this buildup can lead to neurological and developmental problems if left untreated.
What happens during the disease - classical phenylketonuria
Classical phenylketonuria is an autosomal recessive disorder caused by a mutation in the gene encoding phenylalanine hydroxylase, an enzyme that catalyzes the conversion of phenylalanine to tyrosine. this results in an accumulation of phenylalanine in the body, leading to a variety of symptoms including mental retardation, seizures, and behavioral problems.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Blood test to measure the levels of phenylalanine
- Urine test to measure the levels of phenylalanine
- Genetic testing to identify the specific mutation associated with the disease
- Neuropsychological testing to assess cognitive and behavioral development
- MRI or CT scan to look for brain abnormalities
- Hearing test to assess auditory development
Treatment and Medical Assistance
Main goal of the treatment: To reduce the amount of phenylalanine in the body and prevent the development of complications.
- Dietary management to reduce phenylalanine intake
- Monitoring of blood phenylalanine levels
- Regular medical check-ups
- Genetic counseling and education
- Regular monitoring of growth and development
- Regular monitoring of cognitive and behavioral development
- Regular monitoring of heart and bone health
- Regular monitoring of kidney health
- Regular monitoring of eye health
- Regular monitoring of dental health
- Regular monitoring of liver health
- Regular monitoring of skin health
- Regular monitoring of hearing and speech development
- Regular monitoring of motor development
- Regular monitoring of thyroid health
- Regular monitoring of immune system health
- Regular monitoring of respiratory system health
- Regular monitoring of reproductive system health
- Regular monitoring of endocrine system health
- Regular monitoring of gastrointestinal system health
- Regular monitoring of metabolic system health
- Regular monitoring of neurological system health
- Regular monitoring of psychological health
9 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Classical phenylketonuria - Prevention
Classical phenylketonuria (pku) is a genetic disorder that can be prevented by early screening, followed by a strict phenylalanine-restricted diet. the diet must be started within the first few weeks of life, and must be continued for life. blood tests must be regularly monitored to ensure the diet is effective.