ArticleCureus2024
Hereditary Tyrosinemia Type-1 With Late Presentation: A Case Report.
Article in Cureus, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
1 citing paper in PubMed.
- Unveiling the unexpected: refractory rickets as an uncommon presentation of tyrosinemia type I.BMC pediatrics · 2026Article
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The etiology of hereditary tyrosinemia type 1 (HT-1) is the absence of fumarylacetoacetate hydrolase (FAH), an enzyme that catalyzes the last stage of the tyrosine breakdown process. With an autosomal recessive inheritance pattern, it is an uncommon genetic condition. We present a case of HT-1 in a three-year-old female child characterized by abdominal distension, facial edema, lower limb edema, and an enlarged liver with parenchymal disease. A liver biopsy confirmed mixed nodular cirrhosis, and a subsequent whole exome sequencing revealed autosomal recessive inheritance of tyrosinemia type 1. The patient is currently undergoing treatment with capsule nitisinone 5 mg, which inhibits the second step of tyrosine degradation to prevent tyrosinemia, along with a restricted protein diet, while awaiting liver transplantation.
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