Results 71 to 80 of about 1,331 (171)

Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism [PDF]

Journal of Clinical Investigation, 2011
Oculocutaneous albinism (OCA) is a group of genetic disorders characterized by hypopigmentation of the skin, hair, and eyes. Affected individuals experience reduced visual acuity and substantially increased skin cancer risk. There are four major types of OCA (OCA1-OCA4) that result from disruption in production of melanin from tyrosine.
Prashiela, Manga, Seth J, Orlow
openaire   +2 more sources

Asymptomatic corneal keratopathy secondary to hypertyrosinaemia following low dose nitisinone and a literature review of tyrosine keratopathy in alkaptonuria [PDF]

, 2018
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.
Hughes, AT, Gallagher, JA, Stewart, RMK, Briggs, MC, Judd, S, Milan, AM, Khedr, M, Lock, EA, Ranganath, LR   +8 more
core   +1 more source

Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT The introduction of nitisinone (NTBC) and newborn screening for Tyrosinemia type 1 (TT1) enabled preemptive treatment of patients, thereby significantly improving outcomes by preventing liver, kidney, and neurological issues. Treatment goals have shifted from emergency treatment to long‐term care.
Allysa M. Kuypers, Anibh M. Das, Arianna Maiorana, M. Rebecca Heiner‐Fokkema, Francjan J. van Spronsen, The TT1 MetabERN Professional Collaboration Group, Diana Ballhausen, Lukasz Kaluzny, François‐Guillaume Debray, Yngve Thomas Bliksrud, Katarina Brennerova, Amaya Bélanger‐Quintana, Joanna Taybert, Yılmaz Yıldız, Ayşegül Tokatlı, Serap Sivri, Ali Dursun, Paula Sánchez Pintos, Amelie S. Lotz‐Havla, Ute Spiekerkoetter, Natalie Weinhold, Julia Neugebauer, Corinne de Laet, Agne Cerkauskaite Kerpauskiene, Andrea Bordugo, Fatma Derya Bulut, Pascale De Lonlay, Allan M. Lund, Dagmar Prochazkova, Ana Gaspar, Alessandro Rossi, Beata Kieć‐Wilk, Dorothea Haas, Eva Thimm, Javier de las Heras, Jiri Zeman, Marion Brands, Sarah Catharina Grünert, Margreet A. E. Wagenmakers, Francesco Porta, Urh Groselj   +40 more
wiley   +1 more source

Tailoring a Functional Synthetic Microbial Community Alleviates Fusobacterium nucleatum‐infected Colorectal Cancer via Ecological Control

Advanced Science, Volume 12, Issue 31, August 21, 2025.
The bottom‐up strategy based on multiomics data is used for the SynCom design, and it successfully inhibited F. nucleatum growth and achieved stable colonization in vivo. In addition, it promoted tryptophan metabolism and secondary bile acid conversion, reduced lipid accumulation, relieved microbiome disorder, decreased inflammatory reaction, and ...
Zhongkun Zhou, Mengyue Yang, Hong Fang, Baizhuo Zhang, Yunhao Ma, Yongyuan Li, Yingjie Liu, Zeying Cheng, Yuanchun Zhao, Zhenzhen Si, Hongmei Zhu, Peng Chen   +11 more
wiley   +1 more source

Control of Alkaptonuria with Nitisinone and Gene Therapy: A Systematic Review [PDF]

SSRN Electronic Journal, 2019
Alkaptonuria (AKU) is a genetic disorder inherited in accordance with Mendel first law. Mutations in the HGA gene result in the AKU disorder. Three major features of this disorder: arthritis, ochronosis, and the presence of Homogentisic Acid (HGA) in the urine.
openaire   +1 more source

Quantification of the flux of tyrosine pathway metabolites during nitisinone treatment of Alkaptonuria

, 2019
Nitisinone decreases homogentisic acid (HGA) in Alkaptonuria (AKU) by inhibiting the tyrosine metabolic pathway in humans. The effect of different daily doses of nitisinone on circulating and 24 h urinary excretion of phenylalanine (PA), tyrosine (TYR ...
Psarelli, EE, Hughes, AT, Gallagher, JA, Rovensky, J, Milan, AM, Cox, TF, Rhodes, NP, Davison, AS, Khedr, M, Ranganath, LR   +9 more
core   +1 more source

Evaluation of the serum metabolome of patients with alkaptonuria before and after two years of treatment with nitisinone using LC‐QTOF‐MS

JIMD Reports, 2019
Background The homogentisic acid‐lowering therapy nitisinone is being evaluated for the treatment of alkaptonuria (AKU) at the National Centre for AKU. Beyond hypertyrosinemia, the wider metabolic consequences of its use are largely unknown.
Andrew S. Davison, Brendan P. Norman, Gordon A. Ross, Andrew T. Hughes, Milad Khedr, Anna M. Milan, James A. Gallagher, Lakshminarayan R. Ranganath   +7 more
doaj   +1 more source

An anatomical investigation of alkaptonuria: Novel insights into ochronosis of cartilage and bone

Journal of Anatomy, Volume 246, Issue 6, Page 1053-1074, June 2025.
Examination of an alkaptonuria body highlights the susceptibility of all cartilage types and associated perichondrium to ochronotic pigmentation and the heterogeneity of ochronotic pigment distribution both within and between tissues. In joints, calcified cartilage pigments before non‐calcified cartilage.
Juliette H. Hughes, Gemma Charlesworth, Amanda Prior, Claire M. Tierney, Paul D. Rothwell, Neil P. Thomas, Lakshminarayan R. Ranganath, James A. Gallagher, Alistair P. Bond   +8 more
wiley   +1 more source

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Maria‐Rita Moio, Julia Cordeiro Milke, Yannick Moutapam‐Ngamby‐Adriaansen, Arthur Minas Alberti, Marie Gernay, Eduardo Augusto Schutz, Ida Vanessa Doederlein Schwartz, François Maillot   +7 more
wiley   +1 more source

Clinical and biochemical assessment of depressive symptoms in patients with Alkaptonuria before and after two years of treatment with nitisinone [PDF]

, 2018
Objective:Concerns exist over hypertyrosinaemia that is observed following treatment with nitisinone. It hasbeen suggested that tyrosine may compete with tryptophan for uptake into the central nervous system, and orinhibit tryptophan hydroxylase activity
Hughes, G, Hughes, AT, Gallagher, JA, Harrold, JA, Usher, J, Halford, JC, Devine, J, Milan, AM, Norman, B, Davison, AS, Khedr, M, Ranganath, LR   +11 more
core   +1 more source