ArticleJIMD reports2021
Vitiligo, alkaptonuria, and nitisinone-A report of three families and review of the literature.
Article in JIMD reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
10 citing papers in PubMed, 11 citations in OpenAlex.
- Trial
- Specific knockout of kidney homogentisate 1,2-dioxygenase reveals that local metabolism of tyrosine and homogentisic acid is negligible in alkaptonuria.Human molecular genetics · 2026Article
- Managing Alkaptonuria in Absence of Appropriate Medication: A Case Report and Review of Literature.Clinical medicine & research · 2024Review
- Increased prevalence of Parkinson's disease in alkaptonuria.JIMD reports · 2023Article
- First decade anniversary of the United Kingdom National Alkaptonuria Centre.JIMD reports · 2023Article
- Determinants of tyrosinaemia during nitisinone therapy in alkaptonuria.Scientific reports · 2022Article
- Article
- Association of alkaptonuria and low dose nitisinone therapy with cataract formation in a large cohort of patients.JIMD reports · 2022Article
- Characterization of changes in the tyrosine pathway by 24-h profiling during nitisinone treatment in alkaptonuria.Molecular genetics and metabolism reports · 2022Article
- Vitiligo, alkaptonuria, and nitisinone-A report of three families and review of the literature.JIMD reports · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Four patients, from three families, with alkaptonuria receiving 4-hydroxyphenylpyruvate dioxygenase-inhibiting nitisinone therapy, which lowers homogentisic acid and increases tyrosine, developed vitiligo. Three of the four patients were receiving nitisinone 2 mg daily, while the fourth was on 10 mg daily. All four patients were either receiving or had received transiently proton-pump inhibitors as therapy for dyspepsia. The ages of the patients were 35, 42, 40, and 67 years, respectively. Three patients were men and one was a woman. All four patients were either taking a proton-pump inhibitor or had been taking one at some point. Three of the four were of South Asian and one of Caucasian background. The three patients with South Asian background also had either a personal or family history of autoimmune disease. Distressing vitiligo, initially in an acrofacial distribution, developed unexpectedly in these four patients, before then progressing to involve other parts of the body. Potential factors in the appearance of vitiligo in this setting, including nitisinone and other drug therapy, are explored and responses to the appearance of vitiligo are discussed.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.