ArticleJIMD reports2020
Reversal of ochronotic pigmentation in alkaptonuria following nitisinone therapy: Analysis of data from the United Kingdom National Alkaptonuria Centre.
Article in JIMD reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 25 citations in OpenAlex.
- Article
- Combined alkaptonuria and osteoporosis contributing to chronic back pain.Endocrinology, diabetes & metabolism case reports · 2025Article
- An anatomical investigation of alkaptonuria: Novel insights into ochronosis of cartilage and bone.Journal of anatomy · 2025Article
- Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty.Molecular genetics and metabolism reports · 2024Article
- Alkaptonuria.Nature reviews. Disease primers · 2024Review
- Dilemmas in the diagnosis and management of osteoporosis in a patient with alkaptonuria: Successful treatment with teriparatide.Clinical case reports · 2022Article
- Analysis of the Phenotype Differences in Siblings with Alkaptonuria.Metabolites · 2022Article
- Revisiting Quantification of Phenylalanine/Tyrosine Flux in the Ochronotic Pathway during Long-Term Nitisinone Treatment of Alkaptonuria.Metabolites · 2022Article
- Improving the clinical accuracy and flexibility of the Alkaptonuria severity score index.JIMD reports · 2022Article
- Association of alkaptonuria and low dose nitisinone therapy with cataract formation in a large cohort of patients.JIMD reports · 2022Article
- Frequency, diagnosis, pathogenesis and management of osteoporosis in alkaptonuria: data analysis from the UK National Alkaptonuria Centre.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2021Article
- Reversal of ochronotic pigmentation in alkaptonuria following nitisinone therapy: Analysis of data from the United Kingdom National Alkaptonuria Centre.JIMD reports · 2020Article
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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
backgroundIncreased homogentisic acid (HGA) causes ochronosis. Nitisinone decreases HGA. The aim was to study the effect of nitisinone on the ochronosis progression.
methodsPhotographs of the eyes and ears were acquired from patients attending the National Alkaptonuria Centre (NAC) at V-1 (pre-baseline visit), V0 (baseline visit when 2 mg nitisinone was commenced), and yearly at V1, V2, and V3 visits. Photographs were inspected for evolution of ochronotic pigment and also scored categorically to derive eye, ear, and combined ochronosis scores. An ear cartilage biopsy was also carried out at V0 and one year after V3 (V4) and ochronotic pigment was assessed and quantitated. Visits were compared for changes in pigment. Fasting blood and 24-hour urine samples were collected for measurement of HGA.
resultsThere were 80 AKU patients at V0, and 52, 47, and 40 at V1, V2, and V3 in the group with variable numbers (VAR Group) respectively; 23 patients attended once before V0, in the V-1 visit. Photographs of patients show increase in eye pigment between V-1 and V0, followed by decrease post-nitisinone at V1, V2, and V3. Ear and combined ochronosis semiquantitative scoring showed an increase between V-1 and V0 (
conclusionsNitisinone decreases HGA and partially reverses ochronosis.
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