Results 71 to 80 of about 2,978 (184)

Secondary osteoarthritis due to alkaptonuria: a case report [PDF]

Journal of Research in Applied and Basic Medical Sciences
Background & Aims: Alkaptonuria is a rare autosomal recessive genetic disorder caused by a deficiency of homogentisate 1,2-dioxygenase, leading to the accumulation of homogentisic acid.
Sabina Lois, Aruna Veeruswamy, Kamalanathan Kulandaivelu, Mohan Prasad Muthusamy, Yee Tun Oo   +4 more
doaj  

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

Alkaptonuria - Case report

, 2014
Alkaptonuria, also called endogenous ochronosis, is a rare metabolic autosomal recessive disorder. It occurs by complete inhibition of homogentisic acid oxidase enzyme having its deposition in various tissues.
Fonseca,Juliana Salvini Barbosa Martins da, Castro,Carlos Gustavo Carneiro de, Mene,Yuri de Souza Lima, Fernandez,Natalia Monteiro, Mariano,Priscila Coelho, Craide,Fernanda Helena   +5 more
core   +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

The nutritional status of people with alkaptonuria: An exploratory analysis suggests a protein/energy dilemma

JIMD Reports, 2020
Background Alkaptonuria (AKU) is a disorder of tyrosine/protein metabolism leading to accumulation of homogentisic acid. Clinical management historically recommended reducing dietary protein intake, especially in childhood, which has since been ...
Shirley Judd, Milad Khedr, Anna M. Milan, Andrew S. Davison, Andrew T. Hughes, Alexander Needham, Eftychia E. Psarelli, Alan Shenkin, Lakshiminaryan R. Ranganath   +8 more
doaj   +1 more source

Transcatheter Aortic Valve Replacement for Alkaptonuria-Associated Aortic Stenosis

, 2019
Alkaptonuria, a rare disorder of homogentisic acid metabolism, can lead to aortic valvular calcification and stenosis. This report describes the case of a 71-year-old woman with alkaptonuria-associated aortic stenosis in whom minimally invasive surgical ...
Gnanashanmugam, Swaminadhan, Alnajar, Ahmed, Olive, Jacqueline K, Lamelas, Joseph   +3 more
core   +1 more source

Alkaptonuria [PDF]

Proceedings of the Royal Society of Medicine, 1969
H, Saxena, J R, Srivastava, P, Goswami
openaire   +4 more sources

From low back pain to ochronosis: A case of late diagnosed alkaptonuria

, 2023
Background: Alkaptonuria is a rare metabolic autosomal recessive disorder. Its aetiology involves homogentisate 1,2 dioxygenase (HGD) deficiency resulting in homogentisic acid accumulation in the connective tissues (ochronosis).
Turgay, Turkan, Yayla, Erdal, Baloglu, Murat   +2 more
core   +1 more source