ArticleIranian journal of child neurology2017
Neurological Crises after Discontinuation of Nitisinone (NTBC) Treatment in Tyrosinemia.
Article in Iranian journal of child neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 6 citations in OpenAlex.
- An Unusual Presentation of Tyrosinemia Type 1 in a Pediatric Patient: Case Report and Comprehensive Review.Clinical case reports · 2025Article
- Clinical Spectrum of Hereditary Tyrosinemia Type 1 in a Cohort of Pakistani Children.Clinical medicine insights. Pediatrics · 2024Article
- Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1.Paediatric drugs · 2019Review
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTyrosinemia type 1 is a hereditary disorder with liver, kidney and nervous system involvement. Neurological crises can occur in tyrosinemic patients without treatment or when treatment stops. Here we report three children that developed diaphragmatic paralysis after discontinuation of nitisinone. In patients with tyrosinemia type 1, combined treatment with nitisinone and a low-tyrosine diet have prevented neurological crises. The purpose of this article was to express the importance of taking nitisinone (NTBC) for tyrosinemia diseases and risks of inadvertent discontinuation. MATERIALS &
methodsWe describe three children referred to emergency department of Nemazee Hospital, Shiraz, Iran in December 2015 with tyrosinemia type 1 who stopped NTBC treatment, presenting with respiratory. Clinical findings, laboratory results, and imaging study were assessed in three patients on admission and after starting nitisinone.
resultsAll patients developed diaphragmatic paralysis and respiratory distress after interruption of nitisinone treatment
conclusionDiscontinuation of nitisinone can induce diaphragmatic paralysis and respiratory failure. Therefore, we should advise patients to use NTBC for the long term and not interrupt it.
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29201126PMC5703631W2766123212What OpenQuestion holds
Registered trials
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