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Journal of Inherited Metabolic Disease Sep 2015Alkaptonuria (AKU) is an ultra-rare inborn error of metabolism developed from the lack of homogentisic acid oxidase activity, causing homogentisic acid (HGA)... (Review)
Review
Alkaptonuria (AKU) is an ultra-rare inborn error of metabolism developed from the lack of homogentisic acid oxidase activity, causing homogentisic acid (HGA) accumulation that produces an HGA-melanin ochronotic pigment, of hitherto unknown composition. Besides the accumulation of HGA, the potential role and presence of unidentified proteins has been hypothesized as additional causal factors involved in ochronotic pigment deposition. Evidence has been provided on the presence of serum amyloid A (SAA) in several AKU tissues, which allowed classifying AKU as a novel secondary amyloidosis. In this paper, we will briefly review all direct and indirect lines of evidence related to the presence of amyloidosis in AKU. We also report the first data on abnormal SAA serum levels in a cohort of AKU patients.
Topics: Alkaptonuria; Amyloidosis; Cartilage; Humans; Inflammation; Ochronosis; Oxidative Stress; Staining and Labeling
PubMed: 25868666
DOI: 10.1007/s10545-015-9842-8 -
Orvosi Hetilap Jan 1992The authors describe the case of a 40-year old female patient. Since her childhood she realised of her urine the black discoloration of the underwear. For about a year,...
The authors describe the case of a 40-year old female patient. Since her childhood she realised of her urine the black discoloration of the underwear. For about a year, without subjective complaints, blue-black color of the skin involved the axillae and pinnae. For a year appeared the increased pain of thoracal and lumbal spine column and the limitation of motion of these parts. The examination of urine, histological and electron microscopical findings, the X-ray photograph of the spinal column confirmed the diagnosis of alkaptonuria or rather congenital ochronosis.
Topics: Adult; Alkaptonuria; Ear Cartilage; Ear, External; Female; Humans; Ochronosis; Radiography; Spinal Diseases
PubMed: 1734346
DOI: No ID Found -
Deutsche Medizinische Wochenschrift... Feb 1972
Topics: Alkaptonuria; Chemical Phenomena; Chemistry; Diagnosis, Differential; Female; Germany, West; Homogentisic Acid; Humans; Male; Middle Aged; Ochronosis; Phenols; Phenylalanine; Radiography; Sex Factors; Spinal Diseases; Tyrosine
PubMed: 5058585
DOI: 10.1055/s-0028-1107333 -
Reumatologia Clinica 2015
Topics: Alkaptonuria; Humans; Male; Middle Aged; Ochronosis; Osteoporosis
PubMed: 25908477
DOI: 10.1016/j.reuma.2015.02.004 -
International Journal of Dermatology Jan 2010
Topics: Antioxidants; Asian People; Humans; Hydroquinones; Melanosis; Ochronosis; Pigmentation Disorders
PubMed: 20465625
DOI: 10.1111/j.1365-4632.2008.04044.x -
International Journal of Rheumatic... Mar 2014Ochronosis is a term used to describe pigment deposition that occurs in the connective tissues of patients with alkaptonuria, an autosomal recessive disorder that...
OBJECTIVE
Ochronosis is a term used to describe pigment deposition that occurs in the connective tissues of patients with alkaptonuria, an autosomal recessive disorder that results from a deficiency of homogentisic acid oxidase. Brown or blue-gray discoloration of the skin may be seen on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. The sclerae are also typically involved. The cheapest screening test to perform prior to expensive lab tests is the urine oxidation test: having it standing in light for a period of 24 h when suspicion has risen.
METHODS
Retrospective analysis of patients with ochronotic arthropathy seen between September 2011 to September 2013 was carried out.
RESULTS
Seven patients (four male, three female) with ochronotic arthropathy were seen, their mean age was 46.1 years. All patients had bluish-black pigmentations of the ear cartilage and sclera. Spondylosis was seen in all, whereas peripheral arthritis was present in five patients. Moderate aortic insufficiency and calcification of the aortic valve was detected in one male patient. Urine screening for homogentisic acid was positive in all seven patients.
CONCLUSION
Alkaptonuria is a rare autosomal recessive disorder of the metabolism caused by deficiency of homogentisic acid oxidase. It is suggested that more widespread screening should be undertaken in order to assess the true incidence of the disorder.
Topics: Adult; Alkaptonuria; Ear Cartilage; Female; Humans; Incidence; Iran; Male; Middle Aged; Ochronosis; Retrospective Studies; Sclera; Skin Pigmentation
PubMed: 24447956
DOI: 10.1111/1756-185X.12287 -
Journal of the American Academy of... Feb 2002Localized argyria is uncommon and presents clinically as asymptomatic slate gray macules or blue macules resembling blue nevi. Its histopathologic features are usually...
BACKGROUND
Localized argyria is uncommon and presents clinically as asymptomatic slate gray macules or blue macules resembling blue nevi. Its histopathologic features are usually similar to those of generalized argyria in which silver granules are found most commonly around the eccrine glands, in the walls of blood vessels, and along elastic fibers. Ochre swollen homogenized collagen bundles resembling ochronosis have not been previously described.
OBJECTIVE
The purpose of this study is to report a series of 5 patients with localized argyria with the histologic feature of "pseudo-ochronosis." In one patient, biopsy was performed on 2 distinct lesions.
METHODS
All patients underwent skin biopsies for light microscopy and darkfield microscopy. In two patients, the biopsy specimens were analyzed with a mass spectrophotometer; scanning electron microscopy and energy-dispersive x-ray analysis were performed. In one patient, the biopsy specimen was decolorized with 1% potassium ferricyanide in 20% sodium thiosulfate.
RESULTS
All 5 patients presented with the typical clinical and histologic features of localized argyria. Ochre swollen and homogenized collagen bundles were seen in all cases. In addition, light microscopy in 4 cases revealed an ellipsoid black globule within a zone of collagen degeneration.
CONCLUSION
The histologic features of localized argyria include swollen and homogenized collagen bundles resembling ochronosis, "pseudo-ochronosis," which may be more common than previously recognized.
Topics: Aged; Argyria; Biopsy, Needle; Culture Techniques; Female; Humans; Male; Microscopy, Confocal; Microscopy, Electron, Scanning; Middle Aged; Ochronosis; Prognosis; Sensitivity and Specificity; Skin
PubMed: 11807434
DOI: 10.1067/mjd.2002.116227 -
International Journal of Surgical... May 2014
Topics: Aged; Alkaptonuria; Aorta; Humans; Male; Ochronosis
PubMed: 24599900
DOI: 10.1177/1066896914525233 -
JAMA Nov 1976
Topics: Humans; Ochronosis; Quinacrine; Terminology as Topic
PubMed: 1036511
DOI: No ID Found -
Journal of the American Podiatric... Oct 1995
Review
Topics: Alkaptonuria; Female; Hallux Valgus; Humans; Middle Aged; Ochronosis
PubMed: 7473092
DOI: 10.7547/87507315-85-10-554