Tyrosinemia (Noun)
Meaning
Autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation.
Classification
Nouns denoting natural processes.
Examples
- The patient's symptoms were initially misdiagnosed as a rare liver disease, but further testing revealed a diagnosis of tyrosinemia, an autosomal recessive disorder that affects tyrosine metabolism.
- Prenatal genetic testing revealed that the fetus had inherited the gene mutation that causes hereditary tyrosinemia type 1, a serious metabolic disorder with severe health consequences.
- Individuals with tyrosinemia often experience developmental delays and mental retardation, making early diagnosis and treatment crucial for preventing long-term brain damage.
- If left untreated, tyrosinemia can lead to liver failure and kidney disease, highlighting the importance of enzyme replacement therapy and dietary restrictions for managing the condition.
- The rarity of tyrosinemia means that many healthcare providers may not have experience diagnosing or treating the condition, making it essential for patients to seek out specialized care and support.