Ultra-rare disease Hereditary Tyrosinemia Type 1 highlighted on The Balancing Act® airing on Lifetime Television

On November 13, families across America have the opportunity to meet the parents of a little boy who was diagnosed with Hereditary Tyrosinemia Type 1 (HT-1), a rare, life threatening disease, as The Balancing Act® continues its series  Behind the Mystery: Rare and Genetic Diseases. 

Jon and Amanda Miller share the story of how their newborn son Evan was diagnosed with HT-1, a progressive disease which affects infants and children and can be fatal if it is not diagnosed and treated early. Evan was not diagnosed with HT-1 until he was desperately ill.  Fortunately, experts at a children’s hospital were able to diagnose and treat him, saving his life.  “We’re happy to be a part of Behind the Mystery.  We hope that sharing our story can raise awareness of HT-1 and help other families get the support they need,” says Jon Miller, President and Founder of NOTA, the Network of Tyrosinemia Advocates.

The program also features Dr. Muge Calikoglu, Associate Professor of Pediatrics at the University of North Carolina at Chapel Hill, who explains the severity of this very rare disorder, its symptoms, how it impacts patients’ lives, and how it can be managed.  

“It’s great that The Balancing Act has chosen to highlight HT-1. Before treatment options were understood, prognosis was poor and children rarely lived past early childhood.  Today, parents of children who are diagnosed with HT-1 can dream of becoming grandparents, something that wasn’t possible before,” says Rami Levin, President, Sobi North America.

HT-1 is a rare hereditary genetic disorder. Children with the disorder lack an enzyme needed to completely break down tyrosine, one of the building blocks of protein. This results in high levels of tyrosine breakdown products in the blood, which form a toxic substance in the liver, kidney, and central nervous system. If HT-1 is not treated, it may cause liver and kidney damage and neurological problems. HT-1 can be fatal if it is not diagnosed and treated early. Behind the Mystery: Rare and Genetic Diseases is a series produced with the intention of introducing and uniting patients, physicians, and scientists with research, education and opportunity to revolutionize the way our health care system works for the Rare and Genetic Minority. 


For more information please contact

Sobi at 781-786-7370 or visit us at www.sobi-northamerica.com


About Hereditary Tyrosinemia Type 1

Hereditary Tyrosinemia Type 1 (HT-1) is a rare genetic disorder in which the newborn child lacks the ability to break down the amino acid tyrosine. As a result of this deficiency, toxic substances build up in the blood and can cause liver failure, kidney dysfunction and neurological problems. There are two different forms of the disease – acute and chronic. The acute form is most common.

Worldwide, HT-1 affects about one newborn child in 100,000, although geographical variation is seen. HT-1is hereditary. The disorder is caused by a defect in the gene coding for the enzyme responsible for breaking down tyrosine. For a child to be affected by the disease, both parents have to carry a defective gene. The risk of being born with HT-1, i.e. receiving both genes from the parents, is thus 25%.

Children with HT-1 can display symptoms such as failure to gain weight and grow at the expected rate, diarrhea, vomiting, enlarged liver, liver failure, accumulation of fluid in the peritoneal cavity, kidney failure, softening of the bones (rickets) and liver tumors.

The acute form usually appears in the first few months of life. The child has a slow weight gain plus fever, diarrhea, blood in the feces and vomiting. The liver is enlarged and yellowing of the skin and the whites of the eyes (jaundice) with an increased tendency to bleed (particularly nosebleeds) may be evident. The spleen and abdomen can also be enlarged and the legs swollen. Without treatment, liver failure and clotting problems can arise.

Children with the chronic form of HT-1 develop symptoms gradually. The child can suffer from enlarged liver, distended abdomen (due to enlarged liver and spleen, acites and excessive fluids), changes in skeleton, and liver and kidney failure. Symptoms such as abdominal pain, damage to the peripheral nerves and high blood pressure appear. In addition, symptoms common in acute intermittent porphyria can also occur. If the child is not treated, it will develop liver failure and liver tumors. HT-1 is suspected on the basis of clinical presentation. Diagnostic investigations include analyses of amino acids, succinylacetone and alpha-fetoprotein.


About Sobi

Sobi is an international specialty healthcare company dedicated to rare diseases. Our mission is to develop and deliver innovative therapies and services to improve the lives of patients. The product portfolio is primarily focused on Haemophilia, Inflammation and Genetic diseases. We also market a portfolio of specialty and rare disease products for partner companies across Europe, the Middle East, North Africa and Russia. Sobi is a pioneer in biotechnology with world-class capabilities in protein biochemistry and biologics manufacturing. In 2014, Sobi had total revenues of SEK 2.6 billion (USD 380 M) and about 600 employees. The share (STO: SOBI) is listed on NASDAQ OMX Stockholm. More information is available at www.sobi.com and www.sobi-northamerica.com