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(P74.5) Transitory tyrosinaemia of newborn
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167 466 in individuals diagnosis transitory tyrosinaemia of newborn confirmed
Diagnosis transitory tyrosinaemia of newborn is diagnosed Men are 7.87% more likely than Women
90 319
Men receive the diagnosis transitory tyrosinaemia of newborn
0 (less than 0.1%)Died from this diagnosis.
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77 147
Women receive the diagnosis transitory tyrosinaemia of newborn
0 (less than 0.1%)Died from this diagnosis.
Risk Group for the Disease transitory tyrosinaemia of newborn - Men and Women aged 0
In Men diagnosis is most often set at age 0-1
Less common in men the disease occurs at Age 0-95+Less common in women the disease occurs at Age 5-95+
In Women diagnosis is most often set at age 0-5
Disease Features transitory tyrosinaemia of newborn
Absence or low individual and public risk
Transitory tyrosinaemia of newborn - what does this mean
Transitory tyrosinaemia of newborn is a rare metabolic disorder caused by a deficiency in the enzyme fumarylacetoacetate hydrolase (fah). this results in a build-up of toxic substances in the blood, including tyrosine, which can cause symptoms such as vomiting, poor feeding, lethargy and jaundice. it is usually diagnosed in the first week of life and resolves spontaneously within a few days.
What happens during the disease - transitory tyrosinaemia of newborn
Transitory tyrosinaemia of newborn is a rare, inherited metabolic disorder caused by a deficiency of the enzyme fumarylacetoacetate hydrolase in the liver. this enzyme deficiency leads to an accumulation of the toxic metabolites fumarylacetoacetate and maleylacetoacetate in the blood and urine, causing symptoms such as jaundice, poor feeding, and elevated levels of tyrosine in the blood. if left untreated, the disorder can lead to severe liver damage and even death.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Perform a physical examination to assess the baby’s overall health.
- Order a complete blood count (CBC) and other laboratory tests to check for an increase in tyrosine levels.
- Perform an ultrasound to assess the size and structure of the liver.
- Perform a urine test to check for an increase in tyrosine levels.
- Order a liver biopsy to assess the extent of the liver damage.
- Perform a genetic test to check for mutations in the tyrosine hydroxylase gene.
Treatment and Medical Assistance
Main goal of the treatment: To prevent the accumulation of tyrosine and its metabolites in the body of the newborn.
- Monitoring of the newborn's tyrosine levels
- Regular blood tests to check for tyrosine and its metabolites
- Prescription of a low-tyrosine diet
- Prescription of tyrosine-binding drugs
- Prescription of supplements to help the body break down tyrosine
- Regular monitoring of the newborn's growth and development
- Prescription of vitamins and minerals to help the body break down tyrosine
- Prescription of medications to reduce tyrosine levels
- Prescription of medications to reduce the risk of complications
- Regular follow-up visits with a specialist
10 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Transitory tyrosinaemia of newborn - Prevention
Transitory tyrosinaemia of newborn can be prevented by ensuring that pregnant women receive adequate nutrition including protein and vitamins, such as folic acid, during their pregnancy. additionally, it is important to ensure that pregnant women receive regular prenatal care to monitor for any signs or symptoms of the condition.