Results 21 to 30 of about 1,361 (101)

A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT The concept of IMDs has evolved over a century from rare deficits in amino acid catabolism diagnosed by the accumulation of biochemical markers such as phenylketonuria (PKU) to diseases affecting organelle metabolism, synthesis of complex molecules, and cellular trafficking.
Jean‐Marie Saudubray, Manuel Schiff
wiley   +1 more source

Analysis of Interactions Between Pyomelanin and the Extracellular Matrix in an Ex Vivo Turkey Tendon Model

ChemistryOpen, Volume 14, Issue 6, June 2025.
Polymerization of homogentisic acid in the presence of extracellular matrix (ECM) components (an ex vivo turkey tendon model) yields simplified versions of biologically generated melanins in the ECM, facilitating studies of melanin–ECM interactions. A variety of techniques (X‐ray diffraction, microscopy, and spectroscopy) were employed to understand ...
Rebecca F. Shepherd, Hanaa A. Galeb, Jade Bentham, Reza Moshrefi, Katelyn Ryan, Nur Adeelah Che Ahmad Tantowi, Sara J. Baldock, Nathan R. Halcovitch, T. Jane Stockmann, John G. Hardy, Jemma G. Kerns, Adam M. Taylor   +11 more
wiley   +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

Structural Dynamics of Neutral Amino Acid Transporter SLC6A19 in Simple and Complex Lipid Bilayers

Journal of Cellular Biochemistry, Volume 126, Issue 1, January 2025.
ABSTRACT B0AT1 (SLC6A19) is a major sodium‐coupled neutral amino acid transporter that relies on angiotensin converting enzyme 2 (ACE2) or collectrin for membrane trafficking. Despite its significant role in disorders associated with amino acid metabolism, there is a deficit of comprehensive structure‐function understanding of B0AT1 in lipid ...
Budheswar Dehury, Sarbani Mishra, Sunita Panda, Mahender Kumar Singh, Nischal L. Simha, Sanghamitra Pati   +5 more
wiley   +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

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
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

What can pediatricians learn from adult inherited metabolic diseases?

Journal of Inherited Metabolic Disease, Volume 47, Issue 5, Page 876-884, September 2024.
Abstract The field of inherited metabolic diseases (IMD) has initially emerged and developed over decades in pediatric departments. Still, today, about 50% of patients with IMD are adults, and adult metabolic medicine (AMM) is getting more structured at national and international levels.
Fanny Mochel
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

Effect of Nitisinone on Aortic Stenosis Disease Progression in Patients With Alkaptonuria: An Analysis of the Suitability of Nitisinone in Alkaptonuria (SONIA) 2 Study. [PDF]

Cureus
Bruce C, Meenamkuzhy-Hariharan P, Hussain S, Eleuteri A, Ranganath L, Fisher M, Imrich R, Arnoux JB, Olsson B, Rudebeck M.   +9 more
europepmc   +1 more source