Tyrosinemia Type III: A Rare Metabolic Disorder | NOTA Cares

Tyrosinemia Type III is a rare genetic disorder caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase (HPD). This enzyme plays a crucial role in breaking down tyrosine, an amino acid found in protein-rich foods. Without proper enzyme function, toxic byproducts accumulate, leading to neurological issues such as seizures, intellectual disability, and developmental delays. Although less severe than other forms of tyrosinemia, early diagnosis and dietary management can help prevent complications. Since Tyrosinemia Type III is inherited in an autosomal recessive pattern, genetic counseling is recommended for affected families. https://notacares.org/