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Alkaptonuria:a rare disease with multiorgan manifestation and a long-awaited diagnosis [PDF]
BMJ Case ReportsAlkaptonuria is a rare inherited disease resulting from a genetic variant leading to homogentisic acid accumulation in body tissues, causing a broad spectrum of symptoms. Our case involves a Caucasian male diagnosed in his 70s, who shares a constellation
Gundersen, Anne Drasbech +3 more
core +2 more sources
A novel deep intronic variant strongly associates with Alkaptonuria
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 +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
Dermatology Online Journal, 2010 A 69-year-old woman presented with a 30-year history of lower back and large joint pain of the hips and shoulders. On examination blue-grey, pigmented macules were present over the cartilaginous portions of the ears and on the sclera. Past medical history included aortic stenosis.
Yancovitz, Molly +2 more
+9 more sources
TNOA Journal of Ophthalmic Science and Research, 2021 A 58-year-old male came to the ophthalmology outpatient department with complaints of blackish discoloration in both eyes, which he noticed 6 months back.
Suriya Djeamourthy +3 more
doaj +1 more source
Molecules, 2023 Alkaptonuria (AKU) is a rare genetic autosomal recessive disorder characterized by elevated serum levels of homogentisic acid (HGA). In this disease, tyrosine metabolism is interrupted because of the alterations in homogentisate dioxygenase (HGD) gene ...
S. Zaib +5 more
semanticscholar +1 more source
Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria
Scientific Reports, 2023 Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder caused by pathogenic variants in the homogentisate 1,2-dioxygenase ( HGD) gene.
Zeinab S. Abdelkhalek +4 more
semanticscholar +1 more source
A Previously Undiagnosed Case of Alkaptonuria in an 80-Year-Old Patient: A Case Report
Cureus, 2023 Alkaptonuria is a rare genetic metabolic disorder of autosomal recessive inheritance characterised by the accumulation of homogentisic acid in the body.
M. K. Singh +4 more
semanticscholar +1 more source
Detection of homogentisic acid by electrospray ionization mass spectrometry
Journal of Clinical Laboratory Analysis, Volume 37, Issue 21-22, November 2023., 2023 We identified the molecular ion of HGA in all sample solutions by ESI‐MS, regardless of different pH conditions, color changes, or the presence of AA. These results suggest that spectral analysis by ESI‐MS is suitable for the detection of HGA and the diagnosis of alkaptonuria.
Yasunori Tokuhara +4 more
wiley +1 more source