Results 91 to 100 of about 1,641 (186)

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

ALKAPTONURIA SYNDROME-A REVIEW [PDF]

, 2022
Alkaptonuria, also called endogenous ochronosis, and also called as Black Urine Disease, is a rare metabolic autosomal recessive disorder. It occurs by complete inhibition of homogentisic acid oxidase enzyme having its deposition in various tissues ...
AMURUTHAVALLI, B., CHANDRA, P. UJWALA RAMA, DEVI, G. SIREESHA, RANI, V. USHA, RAO, M. TRINADHA   +4 more
core   +1 more source

An in vitro cell model for exploring inflammatory and amyloidogenic events in alkaptonuria

Journal of Cellular Physiology, Volume 239, Issue 12, December 2024.
Abstract Alkaptonuria (AKU) is a progressive systemic inherited metabolic disorder primarily affecting the osteoarticular system, characterized by the degeneration of cartilage induced by ochronosis, ultimately leading to early osteoarthritis (OA).
Pierfrancesco Mastroeni, Michela Geminiani, Tommaso Olmastroni, Luisa Frusciante, Alfonso Trezza, Anna Visibelli, Annalisa Santucci   +6 more
wiley   +1 more source

Evaluation of a casein glycomacropeptide‐based protein substitute, in the dietary management of NTBC‐induced tyrosinaemia in patients with alkaptonuria: A prospective open‐label study

Journal of Human Nutrition and Dietetics, Volume 37, Issue 6, Page 1496-1504, December 2024.
A low tyrosine casein glycomacropeptide‐based protein substitute offers an alternative choice to amino acid–based protein substitutes for the dietary management of NTBC‐induced tyrosinaemia in patients with alkaptonuria (AKU) in terms of adherence, gastrointestinal tolerance and metabolic control. Abstract Background 2‐(2‐Nitro‐4‐trifluoromethylbenzoyl)
Shirley Judd, Ali Hutton, Grace Thomas, Heather Hill   +3 more
wiley   +1 more source

Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant

Molecular Genetics & Genomic Medicine, 2019
Background Tyrosinemia type 1 (HT1, MIM#276700) is caused by a deficiency in fumarylacetoacetate hydrolase (FAH) and it is associated with severe liver and renal disfunction. At present, the mutational FAH (15q25.1, MIM*613871) spectrum underlying HT1 in
Isabel Ibarra‐González, Cynthia Fernández‐Lainez, Miguel Angel Alcántara‐Ortigoza, Ariadna González‐Del Angel, Liliana Fernández‐Henández, Sara Guillén‐López, Leticia Belmont‐Martínez, Lizbeth López‐Mejía, Gustavo Varela‐Fascinetto, Marcela Vela‐Amieva   +9 more
doaj   +1 more source

Exploring the Potential and Challenges of CRISPR Delivery and Therapeutics for Genetic Disease Treatment

Advanced Functional Materials, Volume 34, Issue 38, September 18, 2024.
The review outlines CRISPR's historical progression and highlights advancements in gene editing methods and delivery vehicles. It discusses CRISPR's therapeutic applications for genetic diseases affecting multiple systems like the muscular, cardiovascular, and neurological systems with a focus on inherited blood disorders and eye diseases.
Xinpu Yang, Thuy Anh Bui, Haoqi Mei, Yagiz Alp Aksoy, Fei Deng, Gyorgy Hutvagner, Wei Deng   +6 more
wiley   +1 more source

Age related deviation of gait from normality in alkaptonuria. [PDF]

Alkaptonuria is a rare metabolic disease leading to systemic changes including early and severe arthropathy which affects mobility. Due to unknown reasons, the onset of degenerative changes is delayed to around 30 years of age when both objective and ...
Barton, GJ, Hawken, MB, King, SL, Ranganath, LR, Robinson, MA   +4 more
core  

Comparative analysis of gene and disease selection in genomic newborn screening studies

Journal of Inherited Metabolic Disease, Volume 47, Issue 5, Page 945-970, September 2024.
Abstract Genomic newborn screening (gNBS) is on the horizon given the decreasing costs of sequencing and the advanced understanding of the impact of genetic variants on health and diseases. Key to ongoing gNBS pilot studies is the selection of target diseases and associated genes to be included.
Isabel R. Betzler, Maja Hempel, Ulrike Mütze, Stefan Kölker, Eva Winkler, Nicola Dikow, Sven F. Garbade, Christian P. Schaaf, Heiko Brennenstuhl   +8 more
wiley   +1 more source

Hepatobiliary circulation and dominant urinary excretion of homogentisic acid in a mouse model of alkaptonuria

Journal of Inherited Metabolic Disease, Volume 47, Issue 4, Page 664-673, July 2024.
Abstract Altered activity of specific enzymes in phenylalanine‐tyrosine (phe‐tyr) metabolism results in incomplete breakdown of various metabolite substrates in this pathway. Increased biofluid concentration and tissue accumulation of the phe‐tyr pathway metabolite homogentisic acid (HGA) is central to pathophysiology in the inherited disorder ...
B. P. Norman, H. Sutherland, P. J. M. Wilson, D. A. Rutland, A. M. Milan, A. T. Hughes, A. S. Davison, M. Khedr, J. C. Jarvis, J. A. Gallagher, G. Bou‐Gharios, L. R. Ranganath   +11 more
wiley   +1 more source

Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1)

The Application of Clinical Genetics, 2017
Anibh Martin Das Department of Pediatrics, Hannover Medical School, Hannover, Germany Abstract: Medical therapy for hereditary hepatorenal tyrosinemia (hereditary tyrosinemia type 1, HT-1) with nitisinone was discovered incidentally, and is a by-product ...
Das AM
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