Homogentisic acid oxidase deficiency

2011 ◽  
Keyword(s):  
Homogentisic Acid ◽  
Acid Oxidase ◽  
Oxidase Deficiency

Ochronosis, the Rare Cause of Herniation of a Disc: A Case Report

2020 ◽  
Vol 5 (3 And 4) ◽  
pp. 161-166
Author(s):  
Ali Baradaran Bagheri ◽  
◽  
Farsad Biglari ◽  
Somayeh Soroureddin ◽  
Salman Azarsina ◽  
...  
Keyword(s):  
Histopathological Examination ◽  
Genetic Disorder ◽  
Radicular Pain ◽  
Homogentisic Acid ◽  
The Body ◽  
Leg Pain ◽  
Cartilage Tissue ◽  
Acid Oxidase ◽  
Oxidase Deficiency ◽  
Progressive Muscle Weakness

Background and Importance: Alkaptonuria is a rare genetic disorder due to homogentisic acid oxidase deficiency which eventuates in the reposition of homogentisic acid in different parts of the body and multi-organ involvements. The characteristic bluish-black discoloration of the skin and cartilage tissue is known as ochronosis. Case Presentation: Herein, we reported a 45-year-old woman with chronic pain in the lumbar area and radicular pain in her left leg, aggravating gradually during the previous six months before the operation. She also suffered from progressive muscle weakness in her left lower extremity. The patient was operated for prolapsed disc herniation. Macroscopically, no abnormality of the skin, muscles, or ligaments was observed during surgery. After incision of the annulus in level L3-L4, surprisingly the excised nucleus pulposus was black. The alkaptonuria was diagnosed after histopathological examination of the black disc material and confirmed by urinalysis. Conclusion: The postoperative course was uneventful and the patient was free from low back pain and leg pain after surgery. In patients without any manifestations of alkaptonuria or ochronosis such as our case, timely diagnosis of this pathologic condition is momentous for investigation, treatment, and prevention of other organs’ involvement.  

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 HOMOGENTISIC ACID OXIDASE

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

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 Methylmalonic Acidemia – Cause of Recurrent Neonatal Death and Its Social Implications

2014 ◽  
Vol 34 (2) ◽  
pp. 150-153
Author(s):  
Vasikarla Madhavi ◽  
Deepak Kumar Sharma ◽  
Srinivas Murki ◽  
Tejo Pratap
Keyword(s):  
Short Chain Fatty Acid ◽  
Neonatal Period ◽  
Chain Fatty Acid ◽  
Methylmalonic Acidemia ◽  
Acid Oxidase ◽  
Oxidase Deficiency ◽  
The Third ◽  
History Of ◽  
One Year

Mr and Mrs R, non-consanguineous couple had history of all their children during neonatal period. First two neonates were normal at birth, then presented with lethargy, vomiting and decreased acceptance of feeds. Both the babies expired after birth without being investigated for cause of death. The third neonate was investigated for inborn error of metabolism and found to be affected with methylmalonic acidemia. The couple departed away inspite of extensive counselling. In the fourth pregnancy antenatally fetus was diagnosed as carrier case of methylmalonic acidemia and short chain fatty acid oxidase deficiency. The fourth baby was normal and was in follow up till one year age. DOI: http://dx.doi.org/10.3126/jnps.v34i2.10577 J Nepal Paediatr Soc 2014;34(2):150-153 

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>

scholarly journals d-Amino acid oxidase deficiency is caused by a large deletion in the Dao gene in LEA rats

2020 ◽  
Vol 1868 (9) ◽  
pp. 140463 ◽  
Author(s):  
Yukiko Shimizu ◽  
Chiharu Ishii ◽  
Rieko Yanobu-Takanashi ◽  
Kenta Nakano ◽  
Akio Imaike ◽  
...  
Keyword(s):  
Amino Acid ◽  
Large Deletion ◽  
Acid Oxidase ◽  
Amino Acid Oxidase ◽  
Oxidase Deficiency

4-Hydroxyphenylpyruvic Acid Oxidase Deficiency

2009 ◽  
pp. 873-873
Author(s):  
Dieter Metze ◽  
Vanessa F. Cury ◽  
Ricardo S. Gomez ◽  
Luiz Marco ◽  
Dror Robinson ◽  
...  
Keyword(s):  
Acid Oxidase ◽  
Oxidase Deficiency

scholarly journals Studies on Tyrosinosis: 2, Activity of the Transaminase, Parahydroxyphenyl-pyruvate Oxidase, and Homogentisic-acid Oxidase

BMJ ◽  
1965 ◽  
Vol 1 (5440) ◽  
pp. 968-969 ◽  
Author(s):  
K. Taniguchi ◽  
L. R. Gjessing
Keyword(s):  
Homogentisic Acid ◽  
Acid Oxidase ◽  
Pyruvate Oxidase
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