Results 11 to 20 of about 1,633 (163)
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
Orphanet Journal of Rare Diseases, 2023 Alkaptonuria is a rare inherited disorder for which there was no disease-modifying treatment. In order to develop a successful approved therapy of AKU multiple barriers had to be overcome.
L. R. Ranganath, Nick Sireau
doaj +1 more source
Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review. [PDF]
J Inherit Metab DisABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Moio MR +7 more
europepmc +2 more sources
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
Clinical Case Reports, 2022 Management of osteoporosis in patients with alkaptonuria can be challenging. This is the first case report confirming the effectiveness of teriparatide following zoledronic acid therapy in treating osteoporosis and preventing fragility fractures in a ...
Ismail C. Ebrahim +4 more
doaj +1 more source
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
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