Results 61 to 70 of about 968 (157)

Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria [PDF]

, 2015
Alkaptonuria is an autosomal recessive disease involving a deficiency of the enzyme homogentisate dioxygenase, which is involved in the tyrosine degradation pathway. The enzymatic deficiency results in high concentrations of homogentisic acid (HGA), which results in orthopedic and cardiac complications, among other symptoms.
Ilya, Gertsman, Bruce A, Barshop, Jan, Panyard-Davis, Jon A, Gangoiti, William L, Nyhan   +4 more
openaire   +2 more sources

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

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

Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice [PDF]

, 2015
Alkaptonuria (AKU) is an ultrarare autosomal recessive disorder resulting from a deficiency of homogentisate 1,2 dioxygenase (HGD), an enzyme involved in the catabolism of phenylalanine and tyrosine. Loss of HGD function prevents metabolism of homogentisic acid (HGA), leading to increased levels of plasma HGA and urinary excretion.
Keenan, CM, Preston, AJ, Sutherland, H, Wilson, PJ, Psarelli, EE, Cox, TF, Ranganath, LR, Jarvis, JC, Gallagher, JA   +8 more
openaire   +2 more sources

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

Emergency Management of Intoxication‐Type Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT In many intoxication‐type inherited metabolic disorders, the accumulation of the toxic chemical can cause acute life‐threatening emergencies. Sometimes this is the inevitable consequence of a severe metabolic defect, but it is often triggered by catabolism.
J. Dexter Tarr, Andrew A. M. Morris
wiley   +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

Single‐cell multi‐omics deciphers hepatocyte dedifferentiation and illuminates maintenance strategies

Cell Proliferation, Volume 58, Issue 3, March 2025.
Primary porcine hepatocytes (PPHs) are important for hepatic research and clinical applications. With 10× multiome, we studied their dynamics during dedifferentiation and identified a series of key regulators of this process. Based on these findings, we further formulated a chemical combination that effectively prevents PPH dedifferentiation.
Jie Hao, Zhenyi Wang, Jilong Ren, Shenghao Cao, Zhongchen Xie, Jinghuan Yang, Jiachen Li, Weizhe Ding, Jie Li, Zhiqiang Han, Ye Yuan, Tang Hai, Sheng Ding, Michael Q. Zhang, Minglei Shi   +14 more
wiley   +1 more source

A stability indicating HPLC method for the determination of nitisinone in capsules

Indian Journal of Pharmaceutical Sciences, 2015
In this study a simple and efficient stability-indicating HPLC method with short run time was developed for the determination of nitisinone. The stress degradation of nitisinone was studied in different acidic, basic, oxidative, thermal and photolytic conditions. The chromatographic separation was achieved on a Nova-Pak C18 column using a mixture of 50
Effat, Souri, Farnaz R, Lahiji, Tannaz, Nourhashemi, H, Jalalizadeh   +3 more
openaire   +3 more sources