scholarly journals Analysis of Melanin-like Pigment Synthesized from Homogentisic Acid, with or without Tyrosine, and Its Implications in Alkaptonuria

2016 ◽  
pp. 79-85 ◽  
Author(s):  
Adam M. Taylor ◽  
Koen P. Vercruysse
Keyword(s):  
Homogentisic Acid

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.

Biochemical identification of homogentisic acid pigment in an ochronotic egyptian mummy

Science ◽  
1977 ◽  
Vol 197 (4303) ◽  
pp. 566-568 ◽  
Author(s):  
F. Stenn ◽  
J. Milgram ◽  
S. Lee ◽  
R. Weigand ◽  
A Veis
Keyword(s):  
Homogentisic Acid ◽  
Egyptian Mummy ◽  
Biochemical Identification

Diagnosis of alcaptonuria: Rapid analysis of homogentisic acid by HPLC

1990 ◽  
Vol 189 (1) ◽  
pp. 7-11 ◽  
Author(s):  
Claude Bory ◽  
Roselyne Boulieu ◽  
Christiane Chantin ◽  
Monique Mathieu
Keyword(s):  
Rapid Analysis ◽  
Homogentisic Acid

scholarly journals 180: A HEREDITARY DEFECT OF THE TRANSFORMATION OF P-HYDROXYPHENYLPYRUVATE INTO HOMOGENTISIC ACID

1976 ◽  
Vol 10 (10) ◽  
pp. 900-900
Author(s):  
A Niederwieser ◽  
A Matasović ◽  
P Tippett ◽  
D M Danks ◽  
A Prader
Keyword(s):  
Homogentisic Acid ◽  
Hereditary Defect

scholarly journals HOMOGENTISIC ACID OXIDASE

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

Inborn Errors of Metabolism

1980 ◽  
Vol 2 (6) ◽  
pp. 175-181
Author(s):  
George M. Komrower
Keyword(s):  
Neurospora Crassa ◽  
Inborn Error ◽  
Inborn Errors Of Metabolism ◽  
Metabolic Disorders ◽  
Homogentisic Acid ◽  
Turn Of The Century ◽  
Inborn Errors ◽  
The Family ◽  
The One ◽  
Biochemical Abnormalities

Around the turn of the century Garrard established the concept of an inborn error of metabolism using his study on alcaptonuria to exemplify his hypothesis that a considerable number of metabolic disorders with clearly defined clinical, pathologic, and biochemical abnormalities arise because an enzyme governing a single metabolic step is either reduced in activity or missing altogether. He pointed out the familial distribution of alcaptonuria and later showed that the inheritance could be explained on mendelian principles, ie, the affected individual was homozygous for the abnormal gene and that the inheritance was recessive, both parents being heterozygous for the disorder. He suggested that the accumulation of homogentisic acid in alcaptonuria was evidence that this substance is a normal metabolite in the degradation of tyrosine and attributed this accumulation to a failure of oxidation of homogentisic acid. In addition to alcaptonuria he described cystinunia, pentosuria, and albinism. This work was the forerunner of the classic studies of Beadle and Tatum on mutants of Neurospora crassa which led to the one gene-one enzyme concept. DETECTION Different groups require special attention: the family at risk because of previously affected individuals, those with unusual features suggestive of metabolic disorders, and sick newborns. Screening of normal newborns requires a different approach.

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