scholarly journals HOMOGENTISIC ACID OXIDASE

1955 ◽  
Vol 212 (2) ◽  
pp. 565-582
Author(s):  
Dana I. Crandall
Keyword(s):  
Homogentisic Acid ◽  
Acid Oxidase

Electron Microscopic and Isozyme Study of a Case of Ochronosis

1972 ◽  
Vol 30 ◽  
pp. 88-89
Author(s):  
Jay W. Cha ◽  
Perry J. Melnick
Keyword(s):  
Benzene Ring ◽  
Enzyme System ◽  
Homogentisic Acid ◽  
Degenerative Changes ◽  
Acid Oxidase ◽  
Electron Microscopic ◽  
Tyrosine Metabolism ◽  
Collagenous Tissues

Hereditary ochronosis in very few cases has been examined electron microscopically or histochemically. In this disease homogentisic acid, a normal intermediary of tyrosine metabolism, forms in excessive amounts. This is believed to be due to absence or defective activity of homogentisic acid oxidase, an enzyme system necessary to break the benzene ring and to further break it down to fumaric and acetoacetic acids. Ochronotic pigment, a polymerized form of homogentisic acid, deposits mainly in mesenchymal tissues. There has been a question whether the pigment originates from the collagenous tissues, or deposits passively, where in contrast to melanin it induces degenerative changes.

scholarly journals Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria

2009 ◽  
Vol 30 (12) ◽  
pp. 1611-1619 ◽  
Author(s):  
Thierry Vilboux ◽  
Michael Kayser ◽  
Wendy Introne ◽  
Pim Suwannarat ◽  
Isa Bernardini ◽  
...  
Keyword(s):  
Homogentisic Acid ◽  
Mutation Spectrum ◽  
Acid Oxidase

scholarly journals Sequential tendon ruptures in ochronosis: case report

2017 ◽  
Vol 3 (6) ◽  
pp. 1235
Author(s):  
E. G. Mohan Kumar ◽  
G. M. Yathisha Kumar
Keyword(s):  
Connective Tissue ◽  
Case Reports ◽  
Autosomal Recessive Disorder ◽  
Degradation Pathway ◽  
Homogentisic Acid ◽  
The Body ◽  
Acid Oxidase ◽  
Connective Tissues ◽  
Dark Pigmentation ◽  
Tendon Ruptures

<p>Alkaptonuria is a rare autosomal recessive disorder characterised by the absence of homogentisic acid oxidase, due to deficiency of an enzyme that degrades HGA in the tyrosine degradation pathway. Homogentisic acid (HGA) and its metabolites accumulate in the connective tissues leading to dark pigmentation of connective tissue in patients with alkaptonuria. HGA deposits in connective tissue causes weakness of the tendon and subsequent rupture, especially the large tendons in the body. Only few cases are reported in the literature with multiple tendon rupture but many case reports are available with isolated rupture of tendons. We report on a patient with sequential tendon ruptures in a patient. The case is reported for its rarity.</p>

Purification of the homogentisic acid oxidase from mammalian liver

1995 ◽  
Vol 27 (12) ◽  
pp. 1357-1363 ◽  
Author(s):  
Soňa Hudecová ◽  
Zuzana Straková ◽  
Olga Krianova
Keyword(s):  
Homogentisic Acid ◽  
Acid Oxidase ◽  
Mammalian Liver

scholarly journals SPONTANEOUS ACHILLES TENDON RUPTURE - A CASE OF OCHRONOSIS

2013 ◽  
Vol 03 (03) ◽  
pp. 113-115 ◽  
Author(s):  
Sanath Kumar Shetty ◽  
Raj Sankar N. R. ◽  
Nirmal Babu P. ◽  
Lawrence J. Mathias ◽  
Shubha P. Bhat ◽  
...  
Keyword(s):  
Achilles Tendon ◽  
Spontaneous Rupture ◽  
Autosomal Recessive ◽  
Tendon Rupture ◽  
Achilles Tendon Rupture ◽  
Autosomal Recessive Disorder ◽  
Intervertebral Discs ◽  
Homogentisic Acid ◽  
Acid Oxidase ◽  
Articular Cartilages

AbstractAlkaptonuria is a rare autosomal recessive disorder characterised by the absence of homogentisic acid oxidase and the subsequent accumulation of homogentisic acid, a metabolic product of the aromatic aminoacids phenylalanine and tyrosine; which is deposited in articular cartilages, intervertebral discs, sclera, tympanic membrane, tendons and ligaments leading to their degeneration. Here we describe a case of spontaneous rupture of Achilles tendon1,2,3 due to Ochronosis.

scholarly journals HOMOGENTISIC ACID OXIDASE

1954 ◽  
Vol 208 (2) ◽  
pp. 629-638
Author(s):  
Dana I. Crandall ◽  
Demetreos N. Halikis
Keyword(s):  
Homogentisic Acid ◽  
Acid Oxidase

EXPERIMENTAL ALKAPTONURIA IN THE RAT INDUCED BY TRYPTOPHAN DEFICIENCY

1967 ◽  
Vol 45 (6) ◽  
pp. 791-796 ◽  
Author(s):  
V. R. Woodford ◽  
Lillian Quan ◽  
F. Cutts
Keyword(s):  
Weight Loss ◽  
Thin Layer ◽  
Thin Layer Chromatography ◽  
Homogentisic Acid ◽  
Acid Oxidase ◽  
Growing Rat ◽  
Layer Chromatography ◽  
General Appearance

An experimental alkaptonuria induced by tryptophan deficiency has been observed in the rat. The condition of alkaptonuria followed development of signs of tryptophan deficiency as judged by weight loss of the young, growing rat and its general appearance. Homogentisic acid was identified by a comparison of its behavior on thin-layer chromatography with authentic homogentisate and by means of the enzyme homogentisic acid oxidase. The condition was relieved by the return of tryptophan to the diet.

Black-Colored Ligamentum Flavum Due to Alkaptonuria

2018 ◽  
Vol 80 (02) ◽  
pp. 131-133 ◽  
Author(s):  
Seyho Yucetas ◽  
Necati Ucler
Keyword(s):  
Metabolic Disease ◽  
Heart Valves ◽  
Ligamentum Flavum ◽  
Homogentisic Acid ◽  
Neurogenic Claudication ◽  
Acid Oxidase ◽  
Auricular Cartilage ◽  
Connective Tissues ◽  
Decompressive Laminectomy ◽  
Black Discoloration

AbstractAlkaptonuria is a rare metabolic disease caused by deficiency of homogentisic acid oxidase and characterized by bluish-black discoloration of cartilages and skin (ochronosis). Defective production of this enzyme results in the accumulation of homogentisic acid (HGA), a tyrosine degradation product, in the bloodstream. Accumulation of HGA and its metabolites in tissues causes ochronosis. The word ochronosis refers to the dark bluish-black discoloration of connective tissues including the sclera, cornea, auricular cartilage, heart valves, articular cartilage, tendons, and ligaments. Neurogenic claudication resulting from focal hypertrophy of the ligamentum flavum in the lumbar spine due to ochronotic deposits has only been previously reported once in the literature. In this article, we present a 71-year-old male patient with alkaptonuria-associated degenerative L3–L4–L5 stenosis, diagnosed after lumbar decompressive laminectomy.

Sign in / Sign up

Export Citation Format

Share Document