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August 22, 2025Open Access

Unveiling the Unexpected: Refractory Rickets as an Uncommon presentation of Tyrosinemia Type I

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Authors

MRMeenakshi B. RamannaMKMahesh KamateBKBhavana Koppad

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Overview

Case report reveals refractory rickets in a 3-year-old with tyrosinemia type I, highlighting liver disease implications.

Key Points

  • Refractory rickets was the unusual presenting feature in the case of tyrosinemia type I.
  • The child showed hepatomegaly, floppiness, polyuria, and polydipsia, necessitating further diagnosis.
  • Diagnosis involved identifying hypophosphatemic rickets alongside structural liver disease without dysfunction.
  • This case underscores the need for early detection and treatment to reduce mortality risk associated with tyrosinemia.

Cite This Study

Ramanna et al. (2025) studied this question.

synapsesocial.com/papers/68af73697567bf4f94fed50ehttps://doi.org/10.21203/rs.3.rs-7155199/v1
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