Hereditary Tyrosinemia Type 1 in Jordan: A Retrospective Study

Area of Science:

• Metabolic Disorders
• Genetics
• Pediatrics

Background:

• Hereditary tyrosinemia type 1 (HT1) is a genetic disorder affecting tyrosine metabolism.
• Accumulation of toxic metabolites causes liver, kidney, and neurological damage.
• Untreated HT1 leads to liver failure and increased cancer risk.

Purpose of the Study:

• To review clinical features and treatment delays in Jordanian HT1 patients.
• To highlight diagnostic challenges and advocate for improved screening.

Main Methods:

• Retrospective review of 18 HT1 patients diagnosed between 2010-2021.
• Analysis of clinical data, laboratory results, and sociodemographic history.

Main Results:

• Diagnosis was delayed by an average of 10.5 months post-symptom onset.
• Nitisinone treatment initiation was delayed by 12.28 months post-diagnosis.
• Common symptoms included abdominal pain, vomiting, fever; rickets presented in 42.9% of cases. Two children died.

Conclusions:

• Delayed diagnosis of HT1 is common due to its absence in newborn screening and unfamiliarity with its symptoms.
• Expanding newborn screening to include HT1 is recommended for earlier intervention.