Results 11 to 20 of about 4,051 (207)
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).
Marwan Bukhari, Adam M Taylor
exaly +8 more sources
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
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 +2 more sources
Case report: Thoracolumbar spinal stenosis associated with alkaptonuria
Frontiers in Surgery, 2023 BackgroundAlkaptonuria is a rare autosomal genetic disorder with an incidence of about 1 in 1 million per year. Spinal involvement often manifests in the later stages of the disease.
Hong Ding +4 more
doaj +2 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 +2 more sources
An in vitro cell model for exploring inflammatory and amyloidogenic events in alkaptonuria
Journal of Cellular Physiology, Volume 239, Issue 12, December 2024.Alkaptonuria (AKU) is a progressive systemic inherited metabolic disorder primarily affecting the osteoarticular system, characterized by the degeneration of cartilage induced by ochronosis, ultimately leading to early osteoarthritis (OA).
Pierfrancesco Mastroeni +6 more
semanticscholar +2 more sources
Nutritional interventions for patients with alkaptonuria: A minireview
Endocrine Regulations, 2023 Alkaptonuria (AKU, OMIM, No. 203500) is a rare, slow-progressing, irreversible, multisystemic disease resulting from a deficiency of the homogentisate 1,2-dioxygenase enzyme, which leads to the accumulation of homogentisic acid (HGA) and subsequent ...
Imrich Richard +9 more
doaj +2 more sources
Molecular Genetics & Genomic MedicineObjectives Alkaptonuria (AKU) (MIM number 203500) or homogentisic acid oxidase deficiency is a metabolic autosomal recessive disorder caused by mutations in the homogentisate 1, 2‐dioxygenase (HGD) (MIM number 607474) gene.
Ahad Azami +5 more
doaj +2 more sources
Alkaptonuria in a 6 Year Old Patient: Case Report
Urology Case Reports, 2015 Alkaptonuria is a rare disorder of tyrosine catabolism. A 6 year old male child presented with history of darkish staining of the toilet commode following voiding. The urine when kept in a sterile container for a few hours turned black. Urine examination
Rajendra B Nerli, Murigendra B Hiremath
exaly +3 more sources