Results 11 to 20 of about 2,978 (184)

Molecular Analysis of the HGD Gene in 9 Families With Alkaptonuric Ochronosis in Iran and Identification of Two Novel Variants [PDF]

Molecular Genetics & Genomic Medicine
Objectives 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, Mohammad Jahanpanah, Yousef Imani Marani, Diana Mokhtari, Haleh Mokaber, Behzad Davarnia   +5 more
doaj   +3 more sources

Combined alkaptonuria and osteoporosis contributing to chronic back pain [PDF]

Endocrinology, Diabetes & Metabolism Case Reports
Alkaptonuria 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   +3 more sources

Alkaptonuria: Case report

Medical Journal of Dr. D.Y. Patil University, 2015
Alkaptonuria is a rare, autosomal-recessive disorder of phenylalanine/tyrosine metabolism due to congenital deficiency of the enzyme homogentisic acid oxidase. Herein, we are reporting a classical case of alkaptonuria with extensive skin pigmentation and
Swapna S Khatu, Yuvraj E More, Divyank Vankawala, Deepali Chavan, Neeta R Gokhale   +4 more
doaj   +2 more sources

Data on items of AKUSSI in Alkaptonuria collected over three years from the United Kingdom National Alkaptonuria Centre and the impact of nitisinone [PDF]

Data in Brief, 2018
Alkaptonuria is a rare genetic disorder characterized by a high level of circulating (and urine) homogentisic acid (HGA), which contributes to ochronosis when it is deposited in connective tissue as a pigmented polymer.
R. Griffin, E.E. Psarelli, T.F. Cox, M. Khedr, A.M. Milan, A.S. Davison, A.T. Hughes, J.L. Usher, S. Taylor, N. Loftus, A. Daroszewska, E. West, A. Jones, M. Briggs, M. Fisher, M. McCormick, S. Judd, S. Vinjamuri, N. Sireau, J.P. Dillon, J.M. Devine, G. Hughes, J. Harrold, G.J. Barton, J.C. Jarvis, J.A. Gallagher, L.R. Ranganath   +26 more
doaj   +2 more sources

Detection of novel visible-light region absorbance peaks in the urine after alkalization in patients with alkaptonuria. [PDF]

PLoS ONE, 2014
BACKGROUND: Alkaptonuria, caused by a deficiency of homogentisate 1,2-dioxygenase, results in the accumulation of homogentisic acid (2,5-dihydroxyphenylacetic acid, HGA) in the urine.
Yasunori Tokuhara, Kenichi Shukuya, Masami Tanaka, Mariko Mouri, Ryunosuke Ohkawa, Midori Fujishiro, Tomoo Takahashi, Shigeo Okubo, Hiromitsu Yokota, Makoto Kurano, Hitoshi Ikeda, Seiji Yamaguchi, Shinobu Inagaki, Mika Ishige-Wada, Hiromi Usui, Yutaka Yatomi, Tatsuo Shimosawa   +16 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
Vikas Sharma, Rajendra B. Nerli, Prasad V. Magdum, Abhijith Mudegoudra, Murigendra B. Hiremath   +4 more
doaj   +2 more sources

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review [PDF]

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT 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.
Maria‐Rita Moio, Julia Cordeiro Milke, Yannick Moutapam‐Ngamby‐Adriaansen, Arthur Minas Alberti, Marie Gernay, Eduardo Augusto Schutz, Ida Vanessa Doederlein Schwartz, François Maillot   +7 more
wiley   +2 more sources

Perioperative management of patient with alkaptonuria and associated multiple comorbidities

Journal of Anaesthesiology Clinical Pharmacology, 2011
Alkaptonuria is a rare inherited genetic disorder of tyrosine metabolism characterized by a triad of homogentisic aciduria, ochronosis, and arthritis. The most common clinical manifestations of ochronosis involve the musculoskeletal, respiratory, airway,
Ravindra Pandey, Anil Kumar, Rakesh Garg, Puneet Khanna, Vanlal Darlong   +4 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 Reports
Introduction: 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, Maulik Kothari, Hunaid Haider, Maitreya Kedar, Chittaranjan Meshram, B S Shiyam   +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]

Life
Introduction: 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, Maria-Florance Kitova, George Goranov, Krasimir Kraev, Maria Kraeva, Lyudmila Kitova   +5 more
doaj   +2 more sources