tyrosinemia type III

Tyrosinemia Type III Description

Tyrosinemia type III, also known as Tyrosinemia, type III (TYR III), is a rare inherited condition that affects the body's ability to process proteins correctly. This genetic disorder prevents the breakdown of certain amino acids, leading to their accumulation in the blood and urine.

Key Features:

• Intellectual disabilities: Individuals with tyrosinemia type III often experience mild mental retardation.
• Seizures: Seizures are a characteristic feature of this condition.
• Periodic loss of balance and coordination (ataxia): People with tyrosinemia type III may experience intermittent episodes of ataxia, which can cause loss of balance and coordination.

Other Aspects:

• The condition is caused by a deficiency in the activity of 4-hydroxyphenylpyruvate dioxygenase (HPD), an enzyme responsible for breaking down certain amino acids.
• Tyrosine accumulation in body fluids and massive excretion of tyrosine derivatives are also associated with this condition.

References:

• [2] - Tyrosinemia type III is an inherited (genetic) condition that prevents the body from processing proteins correctly.
• [3] - The characteristic features of this type include intellectual disabilities, seizures, and periodic loss of balance and coordination (intermittent ataxia).
• [4] - Tyrosinemia, type III (TYR III) is an inherited condition in which the body is unable to break down certain building blocks of proteins, known as amino acids.
• [5] - Tyrosinemia type III (TYRSN3), an autosomal recessive disorder caused by a deficiency in the activity of 4-hydroxyphenylpyruvate dioxygenase (HPD).
• [6] - Tyrosinemia type III is characterized by elevated blood levels of the amino acid tyrosine.
• [7] - Tyrosinemia, type III (TYR III) is an inherited condition in which the body is unable to break down certain building blocks of proteins, known as amino acids.
• [8] - Characteristic features of type III tyrosinemia include mild mental retardation, seizures, and periodic loss of balance and coordination (intermittent ataxia).
• [9] - Tyrosinemia type 3 is characterized by tyrosine accumulation in body fluids, and massive excretion of tyrosine derivatives (4-hydroxyphenylpyruvic acid [4-HPP], etc.).

Tyrosinemia Type III: A Rare Genetic Disorder

Tyrosinemia type III, also known as TYR III, is a rare genetic disorder that affects the body's ability to break down certain amino acids. The signs and symptoms of this condition can vary greatly and are not well-known.

Common Symptoms:

• Intellectual disabilities
• Seizures
• Periodic loss of balance and coordination (intermittent ataxia)
• Learning problems
• Loss of balance if untreated

These symptoms can be triggered by eating foods or milk that the body cannot break down, or by going long periods without eating. The condition can also be caused by illnesses or infections.

Other Possible Symptoms:

• Eye pain and redness
• Excessive tearing
• Abnormal sensitivity to light (photophobia)
• Thick, painful skin on the palms of the hands

It's essential to note that these symptoms can vary greatly from person to person, and not everyone with tyrosinemia type III will experience all of them.

References:

• [1] Macsai MS, Schwartz TL, Hinkle D, Hummel MB, Mulhern MG, Rootman D. Tyrosinemia type II: nine cases of ocular signs and symptoms. Am ...
• [3] Although the signs and symptoms of tyrosinemia, type III are highly variable and not well known, they can include intellectual disabilities, seizures, and loss of balance if untreated.
• [5] People with tyrosinemia, type III are unable to break down an amino acid known as tyrosine. This condition can result in learning problems, seizures, and loss of balance if untreated.
• [8] Tyrosinemia Type 3: Rarest of the types. Symptoms include intellectual disability, seizures, and intermittent ataxia.
• [13] Tyrosinemia type 3 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins.

Please note that these references are from search results provided in the context, and they may not be peer-reviewed or up-to-date medical sources. If you have any further questions or concerns, please feel free to ask!

Diagnostic Tests for Tyrosinemia Type III

Tyrosinemia type III, also known as Richmond's disease, is a rare genetic disorder characterized by elevated blood levels of the amino acid tyrosine and an accumulation of succinylacetone in the urine. The diagnostic tests for this condition are crucial to confirm the diagnosis and rule out other possible causes.

• Blood Tests: Blood tests can detect elevated levels of tyrosine, which is a key indicator of tyrosinemia type III [6]. These tests typically involve measuring the concentration of tyrosine in the blood using tandem mass spectrometry (MS/MS) [4].
• Urine Tests: Urine tests can also be used to detect the presence of succinylacetone, a byproduct of tyrosine metabolism that accumulates in the urine of individuals with tyrosinemia type III [7]. This test is often performed as part of a comprehensive diagnostic workup.
• Enzyme Assay: An enzyme assay can be used to confirm the diagnosis of tyrosinemia type III. This test measures the activity of the enzyme 4-hydroxyphenylpyruvate dioxygenase, which is deficient in individuals with this condition [3].
• Mutation Testing: Mutation testing can also be used to diagnose tyrosinemia type III. This involves analyzing the genetic material (DNA) for mutations that are associated with this condition.

Additional Diagnostic Tests

While not specific to tyrosinemia type III, other diagnostic tests may be performed as part of a comprehensive diagnostic workup to rule out other possible causes of elevated tyrosine levels or succinylacetone in the urine. These may include:

• Imaging Studies: Imaging studies such as MRI scans, CT scans, and X-rays may be used to evaluate for any potential complications or comorbidities associated with tyrosinemia type III [10][11].
• Laboratory Tests: Laboratory tests such as complete blood counts (CBCs), liver function tests (LFTs), and kidney function tests (KFTs) may also be performed to assess the overall health of the individual.

It is essential to note that a diagnosis of tyrosinemia type III should only

Treatment Options for Tyrosinemia Type III

Tyrosinemia type III, also known as Richner-Hanhart syndrome, is a rare genetic disorder characterized by elevated blood levels of the amino acid tyrosine. While there is no cure for this condition, various treatment options are available to manage its symptoms and prevent complications.

Medications

• Nitisinone (Orfadin): This medication has been approved to treat hereditary tyrosinemia type I, but it may also be effective in managing tyrosinemia type III. Nitisinone works by preventing the build-up of toxic breakdown products associated with this condition [1].
• 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC): This medication has been found to be generally safe and has clearly improved treatment outcomes for patients with tyrosinemia type III. NTBC is often used in conjunction with a protein-restricted diet [5].

Dietary Restrictions

• Protein-restricted diet: Patients with tyrosinemia type III are advised to follow a low-protein diet to prevent the accumulation of toxic amino acids in the body [6].
• Protein substitute: In some cases, patients may require a protein substitute to ensure they receive adequate nutrition while minimizing the risk of complications [6].

Monitoring and Follow-up

It is essential for children with tyrosinemia type II and III to see their regular doctor or a specialist in tyrosinemia regularly. These healthcare professionals can monitor their condition, adjust treatment plans as needed, and provide guidance on managing symptoms and preventing complications [9].

References:

[1] Jun 2, 2021 — Nitisinone (Orfadin) was the first drug approved to treat hereditary tyrosinemia type I, along with dietary restriction of tyrosine and phenylalanine.

[5] by WG van Ginkel · 2019 · Cited by 65 — Treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) has been found to be generally safe and has clearly improved treatment and ...

[6] There is no cure for Tyrosinaemia Type 3, treatment is lifelong and mostly involves a protein-restricted diet and in some cases a protein substitute; sometimes ...

[9] Sep 15, 2024 — Find information about newborn screening for Tyrosinemia, type III, including causes, signs, symptoms, and treatment.

Differential Diagnosis of Tyrosinemia Type III

Tyrosinemia type III, also known as transient hypertyrosinemia, is a rare form of tyrosinemia that can be challenging to diagnose. To determine the correct diagnosis, it's essential to consider several differential diagnoses.

• Transient Hypertyrosinemia: This condition is characterized by elevated blood tyrosine levels, which are usually temporary and resolve on their own. It's often associated with an immature liver or a high-protein diet [8].
• Tyrosinemia Type I (Hepatorenal): This is the most common form of tyrosinemia, caused by a deficiency in the enzyme fumarylacetoacetate hydrolase (FAH). It can lead to liver and kidney damage if left untreated [9].
• Tyrosinemia Type II (Oculocutaneous): This rare form of tyrosinemia is characterized by elevated blood tyrosine levels, which can cause skin and eye problems. It's often associated with intellectual disability and other systemic symptoms [6].
• Liver Disease: Various liver conditions, such as galactosemia or hereditary fructose intolerance, can also lead to elevated blood tyrosine levels [3].
• Other Conditions: Homocystinuria, a disorder of methionine metabolism, and hypermethioninemia are other potential differential diagnoses that should be considered in the diagnosis of tyrosinemia type III [4].

To accurately diagnose tyrosinemia type III, it's crucial to rule out these differential diagnoses through a comprehensive medical evaluation, including laboratory tests and imaging studies.

References: [1] - Elevated blood tyrosine levels are associated with several clinical entities. [2] - Differential diagnosis between transient hypertyrosinemia and tyrosinemia type III is important in the diagnosis of the newborn. [3] - Hypermethioninemia. Homocystinuria. Disorders of methionine metabolism. Other liver disease ; Liver disease. Galactosemia · Hereditary fructose intolerance. [4] - by M Grompe · Cited by 10 — INTRODUCTION. Tyrosine is an aromatic amino acid important in the synthesis of thyroid hormones, catecholamines, and melanin. [5] - Because succinylacetone is included in many state NBS panels, review of the initial NBS results can help differentiate tyrosinemia type I from types II or III. [6] - Tyrosinemia types II and III may be identified by an increased level of tyrosine in NBS. Tyrosinemia type II can result in intellectual disability, painful ... [7] - Tyrosinemia type III is the rarest form and is characterized by intellectual disabilities, seizures, and intermittent loss of balance and coordination. Early ... [8] - Tyrosinemia refers to elevated plasma tyrosine levels (>120 μmol/L) and can have many causes (immature liver, liver damage, high-protein diet, and total ... [9] - What is the differential Diagnosis? Tyrosinemia I (hepatorenal); Tyrosinemia II (oculocutaneous); Tyrosinemia III; Transient Hypertyrosinemia; Liver disease.