Tyrosinemia In Newborns: Symptoms, Causes And Treatment

Tyrosinemia In Newborns: Symptoms, Causes And Treatment

6 Jun 2023 | 5 min Read

Manisha Pradhan

Author | 1053 Articles

Tyrosinemia in newborns is a rare metabolic disorder that affects newborns, specifically, their ability to break down the amino acid tyrosine. This condition arises due to an enzyme deficiency, leading to the buildup of toxic byproducts in the body. 

Early diagnosis and prompt intervention are crucial for managing tyrosinemia in newborns effectively. Know the causes, symptoms, diagnosis, and treatment options for tyrosinemia.

What Is Tyrosinemia In Newborns?

Tyrosine is an essential amino acid found in many protein-rich foods. In healthy individuals, an enzyme called fumarylacetoacetate hydrolase (FAH) helps break down tyrosine, converting it into harmless substances that the body can eliminate.

However, in newborns with tyrosinemia, this enzyme is either deficient or absent, leading to a buildup of toxic substances such as succinylacetone in the liver, blood, and other organs.

Types of Tyrosinemia

There are three types of tyrosinemia, each caused by a different enzyme deficiency:

  • Type I Tyrosinemia (HT-1): This is the most severe form of the condition and is caused by a deficiency of the FAH enzyme. It affects multiple organs, particularly the liver, leading to liver failure if left untreated.
  • Type II Tyrosinemia (HT-2): This type is caused by a deficiency of the enzyme tyrosine aminotransferase (TAT). It primarily affects the eyes and skin, leading to painful skin lesions and eye abnormalities.
  • Type III Tyrosinemia (HT-3): The rarest form of tyrosinemia, HT-3 is caused by a deficiency of 4-hydroxyphenylpyruvate dioxygenase (HPPD). It primarily affects the eyes, leading to corneal ulcers and intellectual disability in some cases.

Symptoms Of Tyrosinemia In Newborns

Tyrosinemia In Newborns: Symptoms
There are three types of tyrosinemia, each caused by a different enzyme deficiency/ Image source: freepik

The symptoms of tyrosinemia can vary depending on the type and severity of the condition. Some common signs and symptoms include:

  • Poor weight gain and growth
  • Yellowing of the skin and eyes (jaundice)
  • Enlarged liver and spleen
  • Vomiting and diarrhoea
  • Blood in the urine
  • Increased tendency to bleed
  • Developmental delay or intellectual disability (in severe cases)
  • Eye abnormalities (in HT-2 and HT-3)

How Is Tyrosinemia In Newborns Diagnosed?

Diagnosing tyrosinemia involves a series of tests, including:

Newborn screening

Many countries perform routine newborn screening tests, including a blood spot test, which can detect tyrosinemia before symptoms occur. Elevated tyrosine levels in the blood can indicate the presence of the condition.

Blood and urine tests

Further blood and urine tests are conducted to measure the levels of tyrosine, succinylacetone, and other metabolites associated with tyrosinemia.

Genetic testing

Genetic testing can identify the specific enzyme deficiency causing tyrosinemia and can also help determine if parents are carriers of the condition.

Treatment Of Tyrosinemia In Newborns

The primary goal of treating tyrosinemia is to reduce the levels of toxic substances in the body. The treatment options include:

Dietary restrictions: A low-protein diet, especially limiting foods rich in tyrosine and phenylalanine, is essential to manage tyrosinemia. Specialised formulas and medical foods are available to provide adequate nutrition while restricting problematic amino acids.

Medication: Nitisinone is a medication commonly prescribed for tyrosinemia. It works by inhibiting an enzyme involved in the production of toxic metabolites, thus reducing their accumulation. 

Nitisinone is usually combined with a low-protein diet to effectively manage the condition. Regular monitoring of blood tyrosine levels is necessary to adjust the dosage accordingly.

Vitamin and nutrient supplementation: Since a restricted diet may not provide all the necessary nutrients, healthcare providers often recommend vitamin and mineral supplements to ensure proper growth and development. 

These supplements are tailored to meet the individual needs of the child and may include vitamin D, essential fatty acids, and other necessary nutrients.

Liver transplantation: In severe cases of type I tyrosinemia where the liver is severely damaged or if the condition progresses despite medical treatment, a liver transplantation may be considered. Liver transplantation can replace the deficient enzyme-producing liver cells and effectively manage the condition. 

However, it is typically reserved for cases that do not respond to other treatments or when liver failure is imminent.

Regular follow-up visits with healthcare professionals, including metabolic specialists and dietitians, are crucial to monitor the child’s growth, adjust dietary restrictions, and ensure optimal management of the condition.

How To Take Care Of Newborns With Tyrosinemia

Living with tyrosinemia requires a multidisciplinary approach involving healthcare professionals, parents, and caregivers. Here are some important considerations:

Strict adherence to the prescribed diet

Following a low-protein diet is essential to minimize the accumulation of toxic substances. Parents and caregivers must work closely with a dietitian to understand which foods to avoid and ensure the child receives appropriate nutrition.

Monitoring and managing symptoms

Regular check-ups and monitoring of blood tyrosine levels are necessary to adjust treatment plans. Prompt identification and management of symptoms such as jaundice, vomiting, or diarrhoea are crucial to prevent complications.

Emotional support and education

Coping with a rare metabolic disorder can be challenging for families. Seeking support from support groups, online communities, and counselling services can provide emotional support and valuable information about managing the condition.

Genetic counselling

Parents of a newborn with tyrosinemia may consider genetic counselling to understand the risk of passing on the condition to future children. Genetic counsellors can provide information about carrier status and discuss options for family planning.

With a combination of dietary restrictions, medication, and regular monitoring, children with tyrosinemia in newborns can be controlled and they can lead fulfilling lives.

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