An Unusual Presentation of Tyrosinemia Type 1 in a Pediatric Patient: Case Report and Comprehensive Review
ABSTRACT Tyrosinemia type 1 often manifests with liver, renal, or peripheral neuropathy disorders. Before therapies like nitisinone, management was limited to dietary modifications and liver transplantation. We present a 19‐month‐old girl who developed respiratory distress requiring intubation, with...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-04-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.70384 |
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| Summary: | ABSTRACT Tyrosinemia type 1 often manifests with liver, renal, or peripheral neuropathy disorders. Before therapies like nitisinone, management was limited to dietary modifications and liver transplantation. We present a 19‐month‐old girl who developed respiratory distress requiring intubation, with abnormal laboratory findings, including liver function tests. Further work‐up, including succinylacetone testing, confirmed tyrosinemia. She responded remarkably to nitisinone treatment. |
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| ISSN: | 2050-0904 |