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 +4 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 +5 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 +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
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
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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
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
Transcatheter Aortic Valve Implantation in Alkaptonuria-Аssociated Severe Aortic Stenosis: A 2.5-Year Follow-Up Case Report and Literature Review [PDF]
LifeIntroduction: Alkaptonuria is an autosomal-recessive disorder affecting the metabolism of tyrosine and phenylalanine which results in accumulation of homogentisic acid in connective tissues.
Spas Kitov +5 more
doaj +2 more sources
Case Report: Ochronotic arthropathy mimicking spondyloarthritis: a case-based review of diagnostic pitfalls and a novel likely pathogenic HGD variant [PDF]
Frontiers in GeneticsBackgroundAlkaptonuria (AKU) is a rare autosomal recessive metabolic disorder caused by homogentisate 1,2-dioxygenase (HGD) deficiency, leading to pigment deposition and progressive ochronotic arthropathy (OchA), which may mimic chronic inflammatory or ...
Zhicheng Liu +9 more
doaj +2 more sources