ArticleFrontiers in pediatrics2019
Hawkinsinuria With Direct Hyperbilirubinemia in Egyptian-Lebanese Boy.
Article in Frontiers in pediatrics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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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.
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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
2 citing papers in PubMed, 5 citations in OpenAlex.
- Disease associated missense substitutions disrupt structural stability and catalytic function of 4-hydroxyphenylpyruvate dioxygenase.The Journal of biological chemistry · 2026Article
- Hawkinsinuria clinical practice guidelines: a Mexican case report and literature review.The Journal of international medical research · 2020Review
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tyrosinemia type III is the rarest type of tyrosinemia, because of a mutation in 4-OH-phenylpyruvate dioxygenase (HPD). This causes two different types of diseases with different modes of inheritance: tyrosinemia type III and hawkinsinuria. Hawkinsinuria is an autosomal dominant disease, which presents a failure to thrive and metabolic acidosis; however, the liver is not affected. P.A33T heterozygous mutation was reported by Tomoeda et al. to cause hawkinsinuria. This case report will present the first case of an Egyptian-Lebanese male who developed direct hyperbilirubinemia and was found to have tyrosinemia type III, due to elevated tyrosine levels in the blood and tyrosine derivatives in the urine, but genetic testing revealed a P.A33T heterozygous mutation, a cause of hawkinsinuria.
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