ArticleJIMD reports2018
Asymptomatic Corneal Keratopathy Secondary to Hypertyrosinaemia Following Low Dose Nitisinone and a Literature Review of Tyrosine Keratopathy in Alkaptonuria.
Article in JIMD reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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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Who cites it
15 citing papers in PubMed, 28 citations in OpenAlex.
- Article
- A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria.Scientific reports · 2022Article
- Article
- Article
- Adequacy of nitisinone for the management of alkaptonuria.Annals of medicine and surgery (2012) · 2022Article
- Association of alkaptonuria and low dose nitisinone therapy with cataract formation in a large cohort of patients.JIMD reports · 2022Article
- Impact of Nitisinone on the Cerebrospinal Fluid Metabolome of a Murine Model of Alkaptonuria.Metabolites · 2022Article
- Long-term low dose nitisinone therapy in adults with alkaptonuria shows no cognitive decline or increased severity of depression.JIMD reports · 2022Article
- Effects of a protein-restricted diet on body weight and serum tyrosine concentrations in patients with alkaptonuria.JIMD reports · 2022Article
- β-Cyclodextrin Derivative Grafted on Silica Gel Represents a New Polymeric Sorbent for Extracting Nitisinone from Model Physiological Fluids.Molecules (Basel, Switzerland) · 2021Article
- Preventive use of nitisinone in alkaptonuria.Orphanet journal of rare diseases · 2021Article
- The nutritional status of people with alkaptonuria: An exploratory analysis suggests a protein/energy dilemma.JIMD reports · 2020Article
- Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria.Journal of inherited metabolic disease · 2020Observational
- Incidentally Discovered Ochronosis Explaining Decades of Chronic Pain.Federal practitioner : for the health care professionals of the VA, DoD, and PHS · 2020Article
- Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone.JIMD reports · 2018Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Nitisinone, although unapproved for use in alkaptonuria (AKU), is currently the only homogentisic acid lowering therapy with a potential to modify disease progression in AKU. Therefore, safe use of nitisinone off-label requires identifying and managing tyrosine keratopathy. A 22-year-old male with AKU commenced 2 mg daily nitisinone after full assessment. He was issued an alert card explaining potential ocular symptoms such as red eye, tearing, ocular pain and visual impairment and how to manage them. On his first and second annual follow-up visits to the National Alkaptonuria Centre (NAC), there was no corneal keratopathy on slit lamp examination. On his third follow-up annual visit to the NAC, he was found to have typical dendritiform corneal keratopathy in both eyes which was asymptomatic. Nitisinone was suspended until a repeat slit lamp examination, 2 weeks later, confirmed that the keratopathy had resolved. He recommenced nitisinone 2 mg daily with a stricter low protein diet. On his fourth annual follow-up visit to the NAC, a routine slit lamp examination showed mild corneal keratopathy in the left eye. This is despite him reporting no ocular symptoms. This case highlights the fact that corneal keratopathy can occur without symptoms and any monitoring plan with off-label use of nitisinone in AKU will need to take this possibility into account. This is also the first time that typical corneal keratopathy has been described with the use of low dose nitisinone in AKU without symptoms.
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Registered trials
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