Results 11 to 20 of about 2,793 (181)
A novel deep intronic variant strongly associates with Alkaptonuria [PDF]
npj Genomic Medicine, 2021 Alkaptonuria is a rare autosomal recessive inherited disorder of tyrosine metabolism, which causes ochronosis, arthropathy, cardiac valvular calcification, and urolithiasis. The epidemiology of alkaptonuria in East Asia is not clear.
Chien-Yi Lai +8 more
doaj +7 more sources
Medical Journal of Dr. D.Y. Patil University, 2015 Alkaptonuria is a rare, autosomal-recessive disorder of phenylalanine/tyrosine metabolism due to congenital deficiency of the enzyme homogentisic acid oxidase. Herein, we are reporting a classical case of alkaptonuria with extensive skin pigmentation and
Swapna S Khatu +4 more
doaj +2 more sources
Data on items of AKUSSI in Alkaptonuria collected over three years from the United Kingdom National Alkaptonuria Centre and the impact of nitisinone [PDF]
Data in Brief, 2018 Alkaptonuria is a rare genetic disorder characterized by a high level of circulating (and urine) homogentisic acid (HGA), which contributes to ochronosis when it is deposited in connective tissue as a pigmented polymer.
R. Griffin +26 more
doaj +2 more sources
Perioperative management of patient with alkaptonuria and associated multiple comorbidities
Journal of Anaesthesiology Clinical Pharmacology, 2011 Alkaptonuria is a rare inherited genetic disorder of tyrosine metabolism characterized by a triad of homogentisic aciduria, ochronosis, and arthritis. The most common clinical manifestations of ochronosis involve the musculoskeletal, respiratory, airway,
Ravindra Pandey +4 more
doaj +2 more sources
Transcatheter Aortic Valve Implantation in Alkaptonuria-Аssociated Severe Aortic Stenosis: A 2.5-Year Follow-Up Case Report and Literature Review [PDF]
LifeIntroduction: Alkaptonuria is an autosomal-recessive disorder affecting the metabolism of tyrosine and phenylalanine which results in accumulation of homogentisic acid in connective tissues.
Spas Kitov +5 more
doaj +2 more sources
An Enigmatic Color Change of Urine: Alkaptonuria: Alkaptonuria [PDF]
, 2023 Alkaptonuria is an exceedingly rare tyrosine metabolism disorder of autosomal recessiveinheritance. Only a few instances of it have been observed in Bangladeshi children.
Majumder, Rita +5 more
core +1 more source
Myocardial Infarction with Alkaptonuria: A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2018 Alkaptonuria is an autosomal recessive disorder due to deficiency of homogentesic acid oxidase, an important enzyme in the catabolism of aromatic amino acids. Homogentesic acid is finally converted to fumarate and acetoacetate.
KS Lakshmi +3 more
doaj +1 more source
An Uncommon Clinical Presentation of a Rare Disease-Alkaptonuria: Case Report
Pakistan Armed Forces Medical Journal, 2023 Palmoplantar pigmentation is a rare clinical presentation of alkaptonuria, a rare inborn error of phenylalanine and tyrosine metabolism. Alkaptonuria occurs owing to a deficiency of an enzyme homogentisic acid oxidase inherited as an autosomal ...
Umar Abdul Ali Qureshi +1 more
doaj +1 more source
Possible Relationship Between Infertility And Alkaptonuria [PDF]
, 2013 Alkaptonuria is a rare metabolic disease which is not known to cause infertility up to now. Reported manifestations are mainly darkening of urine, ochronotic pigmentation of skin and various musculoskeletal symptoms.
Vural, Mehmet +3 more
core +5 more sources