Results 71 to 80 of about 1,396 (170)
Nutrition in Pediatric Metabolic Dysfunction–Associated Steatotic Liver Disease (MASLD)
Journal of Nutrition and Metabolism, Volume 2026, Issue 1, 2026.Lifestyle change, including weight loss in children with overweight and obesity, through intensive health behavior and lifestyle treatment (IHBLT) is one of the main pillars in the management of pediatric metabolic dysfunction–associated steatotic liver disease (MASLD).
Dieudonne Nonga +9 more
wiley +1 more source
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 +4 more
openaire +2 more sources
A 3-year randomized therapeutic trial of nitisinone in alkaptonuria [PDF]
Molecular Genetics and Metabolism, 2011 Alkaptonuria is a rare, autosomal recessive disorder of tyrosine degradation due to deficiency of the third enzyme in the catabolic pathway. As a result, homogentisic acid (HGA) accumulates and is excreted in gram quantities in the urine, which turns dark upon alkalization.
Wendy J, Introne +12 more
openaire +2 more sources
Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.ABSTRACT Liver transplantation (LTx) has become, over the years, an increasingly used therapeutic option in patients with inherited metabolic diseases (IMD). Initially performed for Tyrosinemia Type I and ornithine transcarbamylase deficiency, it now accounts as the second indication for pediatric transplants worldwide. The use of LTx has been extended
Andrea Pietrobattista +3 more
wiley +1 more source
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
Clinical and Translational Science, Volume 18, Issue 10, October 2025.ABSTRACT Rare diseases affect a small population of patients, resulting in low incentives for developing orphan drug products (ODPs). The United States Congress passed the Orphan Drug Act of 1983 to incentivize pharmaceutical manufacturers to develop drugs to treat rare diseases.
Robert Hopefl +6 more
wiley +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 +40 more
wiley +1 more source
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 +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
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 +8 more
wiley +1 more source