Results 71 to 80 of about 2,793 (181)
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 +3 more
wiley +1 more source
Secondary osteoarthritis due to alkaptonuria: a case report [PDF]
Journal of Research in Applied and Basic Medical SciencesBackground & 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 +4 more
doaj
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
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 +11 more
wiley +1 more source
, 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 +5 more
core +1 more source
, 2017 Alkaptonuria is a rare metabolic autosomal recessive disorder. It occurs due to lack of an enzyme that results in deposition of homogentisic acid in various tissues. A male patient of 45 years presented with back pain for 20 years and multiple joint pain
Sirajul Islam +3 more
core +1 more source
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 +8 more
doaj +1 more source
, 2017 Alkaptonuria is a rare inborn error of metabolism with autosomal recessive inheritance with a mutation in homogentisate 1,2-dioxygenase. It results in accumulation of homogentisic acid in connective tissues (ochronosis). Most common ocular manifestations
GSatyanarayana Reddy +7 more
core +1 more source
Proceedings of the Royal Society of Medicine, 1969 H, Saxena, J R, Srivastava, P, Goswami
openaire +4 more sources
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 +3 more
core +1 more source