Results 1 to 10 of about 2,793 (181)
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 +5 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 Michael Taylor, Marwan Bukhari
exaly +11 more sources
Molecular Analysis of the HGD Gene in 9 Families With Alkaptonuric Ochronosis in Iran and Identification of Two Novel Variants [PDF]
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 +3 more sources
Clinical Case Reports (discontinued), 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 ...
Mohamed K M Shakir, Thanh Hoang
exaly +2 more sources
Combined alkaptonuria and osteoporosis contributing to chronic back pain [PDF]
Endocrinology, Diabetes & Metabolism Case ReportsAlkaptonuria is a rare autosomal recessive metabolic disorder caused by a deficiency in homogentisate 1,2-dioxygenase (HGD), leading to the accumulation of homogentisic acid (HGA) in connective tissues, cartilage, and bones.
Anna Riegler, Gurpreet Anand
doaj +2 more sources
Clinically probable alkaptonuria-associated ochronosis presenting as multilevel cervical disc herniation with myeloradiculopathy managed by three-level C4–7 anterior cervical discectomy and fusion: a case report [PDF]
Frontiers in EndocrinologyBackground/introductionAlkaptonuria (AKU) is a rare disorder of tyrosine metabolism characterized by homogentisic acid accumulation and ochronotic pigment deposition in connective tissues.
Zichuan Wu +6 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
R Nerli, Murigendra Hiremath
exaly +3 more sources
Non-cemented Total Hip Arthroplasty in a Rare Case with Black Hip, A Case Report [PDF]
Advanced Biomedical ResearchAlkaptonuria is a metabolic disorder characterized by homogentisic acid accumulation in connective tissue. Ochronotic arthropathy, a rare condition reported in alkaptonuria, mostly affects the knee joint.
Ramin Shayan-Moghadam +3 more
doaj +2 more sources
A Dark Turn in the OR: Incidental Discovery of Ochronosis during Trauma Surgery: A Case Report [PDF]
Journal of Orthopaedic Case ReportsIntroduction: Alkaptonuria is a rare autosomal recessive metabolic disorder caused by deficiency of homogentisic acid (HGA) oxidase, leading to the accumulation of HGA. The polymerized oxidation products of HGA in connective tissues, a condition known as
Kumar Parth +5 more
doaj +2 more sources