WHAT IS TYROSINEMIA?

Tyrosinemia is a serious inherited rare disease caused by the inability to metabolise the amino acid Tyrosine.

The most severe form of the disorder is type 1, commonly referred to as HT-1.

The disease is inherited in an autosomal recessive manner, meaning that in order to have the disease, a child must inherit two defective genes, one from each parent. In families where both parents are carriers of the gene for the disease, there is a one in four risk that a child will develop tyrosinemia.

In the so-called acute form of the disease, abnormalities appear in the first month of life.  Let untreated, HT-1 can cause severe liver and kidney damage.

Tyrosine

Phenylalanine

Proteins are made of simple organic compounds called amino acids.

Tyrosine and Phenylalanine are two of 20 amino acids, which are found in most animal and plant proteins. The metabolism of both amino acids in humans takes place primarily in the liver.

Nitisinone Tablets are used to treat Hereditary Tyrosinemia Type-1 (HT-1), a lifelong genetic disease.

In combination with a controlled diet, Nitisinone Tablets block the breakdown of the amino acid Tyrosine, preventing the formation of toxic substances.

HOW DOES HT-1 AFFECT PATIENTS?

LIVER

KIDNEY

NEURON

The defective gene results in a disruption of the final step of metabolism of tyrosine (absence of fumarylacetoacetate hydrolase (FAH) enzyme).

As a result, high levels of tyrosine build up in the blood, forming a toxic substance called succinylacetone.

Left untreated, HT-1 can cause hepatic, renal and peripheral nerve damage. The disease is characterized by progressive liver disease with increased risk of hepatocellular carcinoma (the liver), renal tubular dysfunction with hypophosphatemic rickets (kidneys) and a porphyria-like syndrome (nervous system).

In conjunction with a controlled diet, treatment with Nitisinone Tablets can prevent the formation of succinylacetone further preventing liver and kidney damage. Regular blood and urine tests are used to monitor succinylacetone levels in the body to ensure nitisinone levels are appropriate for treatment.

HOW IS HT-1 DIAGNOSED?

 

The diagnosis of tyrosinemia is based on blood and urine tests to measure levels of succinylacetone.

In both the acute and chronic forms of the disease, liver function tests are often abnormal. Low serum albumin and clotting factors are also frequently found. Transaminase levels in the blood may be mildly to moderately elevated, and the bilirubin level is increased to a variable extent.

Because of the biochemical defect, abnormal products may be measured in the urine which confirm the diagnosis.

Prenatal diagnosis is possible and can be performed by measuring succinylacetone or FAH levels in the amniotic fluid.

INDICATION AND CLINICAL USE

Nitisinone Tablets are indicated for the treatment of hereditary tyrosinemia type 1 (HT-1) in combination with dietary restriction of tyrosine and phenylalanine.

Treatment with Nitisinone Tablets should be initiated and supervised by a physician experienced in the treatment of HT-1.

IMPORTANT INFORMATION ABOUT NITISINONE TABLETS

How do NITISINONE TABLETS work? NITISINONE TABLETS stop the build-up of toxic substances which cause the severe liver and kidney problems in patients with HT-1. By doing that, they also prevent the porphyric crises associated with HT-1.

What are the ingredients in NITISINONE TABLETS? 

  • Medicinal ingredients: Nitisinone
  • Non-medicinal ingredients: glyceryl dibehenate, lactose monohydrate.

Do not use NITISINONE TABLETS if you:

  • Are allergic (hypersensitive) to nitisinone or any of the other ingredients in NITISINONE TABLETS.
  • Are breast-feeding. Do not breast feed while taking NITISINONE TABLETS.

To help avoid side effects and ensure proper use, talk to your healthcare professional before you take NITISINONE TABLETS. Talk about any health conditions or problems you may have, including if you:

  • Are pregnant or planning to become pregnant.

How to take NITISINONE TABLETS

  • NITISINONE TABLETS are usually taken twice a day.
  • Swallow the tablets whole with a drink of water. NITISINONE TABLETS can be taken with or without food.
  • For more information on infant administration refer to the product monograph.

Overdose: If you think you have taken too many NITISINONE TABLETS, contact your healthcare professional, hospital emergency department or regional Poison Control Centre immediately, even if there are no symptoms. If you go to a healthcare professional or to the hospital, take the NITISINONE TABLETS container with you.

Missed Dose: If you forget a dose, take the next dose as planned. Do not take a double dose to make up for a forgotten dose. If you forget to take a dose, contact your healthcare professional or pharmacist.

Storage:
Keep out of reach and sight of children. Store your tablets at room temperature (15 – 30°C), in a dry place. Keep the container tightly closed. There is an expiry date on the label. Do not use the medicine after this date.

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