Hereditary Tyrosinemia Type 1—A Rare Disease with Typical Radiological Features: Case Report and Review of Literature

Abstract Hereditary tyrosinemia type 1 is one of the many inborn errors of metabolism associated with tyrosine catabolism. It is a rare disease with its incidence or prevalence in India unknown. The cascading alternate metabolism results in characteristic injury patterns to the liver, kidneys, and t...

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Published inJournal of Gastrointestinal and Abdominal Radiology Vol. 3; no. S 01; pp. S58 - S64
Main Authors Singh, Somesh, Mall, Rana Vishwadeep, Chaturvedi, Pragya, Yadav, Rajnikant R.
Format Journal Article
LanguageEnglish
Published A-12, Second Floor, Sector -2, NOIDA -201301, India Thieme Medical and Scientific Publishers Pvt. Ltd 01.12.2020
Subjects
Case Report
hepatocellular carcinoma
hereditary tyrosinemia type 1
imaging
succinylacetoacetate
hereditary tyrosinemia type 1
succinylacetoacetate
imaging
hepatocellular carcinoma
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Summary:Abstract Hereditary tyrosinemia type 1 is one of the many inborn errors of metabolism associated with tyrosine catabolism. It is a rare disease with its incidence or prevalence in India unknown. The cascading alternate metabolism results in characteristic injury patterns to the liver, kidneys, and the central nervous system, with resultant classical radiological findings. Identifying this constellation of imaging features by a radiologist may help in arriving at a diagnosis and help referring physicians in performing appropriate biochemical tests and instituting early treatment. These usually present with chronic liver failure and are extensively evaluated for other causes of liver failure. We present a case type 1 hereditary tyrosinemia with characteristic radiological features and highlight its pathophysiology to understand the basis of these imaging findings.
ISSN:2581-9178
2581-9178
DOI:10.1055/s-0040-1708024