Results 1 to 10 of about 2,978 (184)
Indian Journal of Dermatology, 2011 A case of alkaptonuria, a rare disorder with autosomal recessive inheritance, is reported here. The patient had palmar pigmentation in addition to the usual features of alkaptonuria.
G K Tharini +4 more
doaj +7 more sources
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
Rare Diseases (Austin, Tex ), 2013 Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation in a gene that results in the accumulation of homogentisic acid (HGA). Characteristically, the excess HGA means sufferers pass dark urine, which upon standing turns black. This is a feature present from birth.
Adam M Taylor, Marwan Bukhari
exaly +5 more sources
JIMD Reports, 2022 Background Outcomes from studies employing nitisinone 10 mg and 2 mg in alkaptonuria were compared. Patients and methods Sixty‐nine patients in each of the nitisinone (10 mg daily) and controls of suitability of nitisinone in alkaptonuria 2 (SONIA 2), as
Brendan Norman +2 more
exaly +2 more sources
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
A Previously Undiagnosed Case of Alkaptonuria: A Case Report
The Turkish Journal of Gastroenterology, 2013 Alkaptonuria is a rare metabolic disorder in the phenylalanine and tyrosine catabolic pathway which is characterized by the excessive excretion of homogentisic acid in the urine, ochronosis, and debilitating arthritis of the spine and large joints ...
Mohammed ALSBOU, Nesrin MWAFI
doaj +3 more sources
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