概述
What is Hereditary Tyrosinemia Type 1
Hereditary tyrosinemia type 1 is a rare genetic disorder characterized by the lack of the enzyme required to break down the amino acid tyrosine. This enzyme is called fumarylacetoacetate hydrolase (FAH). The resulting inability to break down tyrosine leads to abnormal accumulation in the liver, kidneys, and central nervous system. This can result in severe liver disease.
How common is Hereditary Tyrosinemia type 1
Hereditary tyrosinemia type 1 (HT-1) is a rare condition affecting approximately 1 in 110,000 births worldwide. It is usually recognized during newborn screening or during the first 3 months of life.
Questions regarding your Hereditary Tyrosinemia type 1?
You can reach the Accredo Hereditary Tyrosinemia type 1 care team, anytime, day or night, seven days a week by phone or online.
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症状
What are the symptoms of Hereditary Tyrosinemia type 1
Symptoms can vary greatly from person to person in hereditary tyrosinemia type 1. The acute form of the disease is more common and present at birth or in the first months of life. Infants may exhibit rapid onset of symptoms typically starting with failure to gain weight and grow at the expected rate, known as failure to thrive. Additional symptoms may include fever, diarrhea, bloody stools (melena), and vomiting.
Eventually, patients may experience developmental delays, enlarged liver/spleen, and life-threatening liver failure. Additionally, many infants with hereditary tyrosinemia type 1 develop kidney dysfunction known as Fanconi syndrome. This condition leads to softening of the bone structure and overall weakness.
The chronic form of hereditary tyrosinemia type 1 occurs less frequently, with symptoms slower to appear and less severe. Onset is typically after 6 months of age, and the first symptom is often failure to thrive.
如何诊断
A diagnosis of hereditary tyrosinemia type 1 is made based upon a thorough clinical evaluation, a detailed patient history, and a variety of specialized tests including molecular genetic tests. A diagnosis is likely if tyrosine metabolites and succinylacetone are detected in the urine. Genetic testing is available to identify mutations in the FAH gene for confirmation of diagnosis.
注意：All states include tyrosinemia in their newborn screenings, but some patients may not have elevated tyrosine levels in the first few days of life. This may cause them to test negative initially and have the diagnosis made after symptoms appear.
药品
Hereditary Tyrosinemia type 1
The following specialty medications are available at Accredo, a specialty pharmacy for Hereditary Tyrosinemia type 1.
财政指导
急救性质的特殊药品很昂贵。通过此视频，了解 Accredo 团队如何帮助个人找到可以负担他们救命药品费用的方式。
查找支持
There are many organizations that support research and advocacy for Hereditary Tyrosinemia Type 1. 下面是其中部分组织。
支持组织
政府组织
团队介绍
Accredo’s Hereditary Tyrosinemia Type 1 team is dedicated to serving you and we understand the complexity of your condition. 我们的特殊培训临床医师每周 7 天、每天 24 小时为您提供服务，以回答您的任何问题。
我们为什么要这样做
Accredo 为慢性和复杂病症患者提供支持，并帮助他们过上最好的生活。请观看我们的视频，了解我们为什么为患者尽心尽力。