نتایج جستجو برای: homogentisic acid
تعداد نتایج: 747448 فیلتر نتایج به سال:
Background: Exogenous ochronosis (EO) is a rare cutaneous disorder that disproportionately impacts skin of color and can be very challenging to treat. EO most commonly occurs secondary the continual chronic use hydroquinone resulting in an accumulation homogentisic acid polymerized ochre-colored pigment papillary dermis. There are few US cases date discussing clinicopathology color. From 1983 2...
In 1901, Sir Archibald Edward Garrod made the seminal observation on the inheritance of the inborn errors of metabolism [1, 2]. He described a newborn infant whose urine darkened in its napkin on exposure to air and contained homogentisic acid [2]. The infant was born to apparently normal consanguineous (first cousins) parents and was their fifth child. An older sibling (Thomas P) had previousl...
Horky D.: Submicroscopic Structure of the Human Joint Cartilage and Synovial Membrane in Ochronosis. Acta vet. Bmo,.50, 1981: 131-156. Using a transmission electron .lInd Sc8nning electron microscope the joint cartilage and synovial membrane were studied in 5 persons of the age from 30 to 55 years. In its majority the superficial cartilage layer is absent due to arthritic changes caused by the ...
A 46-year-old man of mixed race had been followed up for the past 7 years at our Rheumatology clinic. He was labelled as ‘burnt out’ rheumatoid arthritis with secondary osteoarthritis. Methotrexate had been stopped 5 years ago. His main complaint was chronic lower backache that had been worsening over the past few years. He did not have any symptoms suggestive of an inflammatory arthropathy. Hi...
In mammals, the catabolic pathway of phenylalanine and tyrosine is found in liver (hepatocytes) and kidney (proximal tubular cells). There are well-described human diseases associated with deficiencies of all enzymes in this pathway except for maleylacetoacetate isomerase (MAAI), which converts maleylacetoacetate (MAA) to fumarylacetoacetate (FAA). MAAI is also known as glutathione transferase ...
Alkaptonuria (AKU) is an ultrarare autosomal recessive disorder resulting from a deficiency of homogentisate 1,2 dioxygenase (HGD), an enzyme involved in the catabolism of phenylalanine and tyrosine. Loss of HGD function prevents metabolism of homogentisic acid (HGA), leading to increased levels of plasma HGA and urinary excretion. Excess HGA becomes deposited in collagenous tissues and subsequ...
The opportunistic human pathogenic fungus Aspergillus fumigatus produces at least two types of melanin, namely pyomelanin and dihydroxynaphthalene (DHN) melanin. Pyomelanin is produced during tyrosine catabolism via accumulation of homogentisic acid. Although pyomelanin protects the fungus against reactive oxygen species (ROS) and acts as a defense compound in response to cell wall stress, muta...
BACKGROUND Alkaptonuria, a rare autosomal recessive metabolic disorder caused by deficiency in homogentisate 1,2-dioxygenase activity, leads to accumulation of oxidised homogentisic acid in cartilage and collagenous structures present in all organs and tissues, especially joints and heart, causing a pigmentation called ochronosis. A secondary amyloidosis is associated with AKU. Here we report a...
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