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1,365 results
  • Bacterial quality of urinary tract in patients with alkaptonuria. [Journal Article]
    Am J Med Sci. 2023 Jan 03 [Online ahead of print]Al-Tarawneh A, Al-Limoun M, … Mizher H
  • CONCLUSIONS: The results deduced that males show symptoms of arthritis early and more severely than females and by this it appears that there is an association between these symptoms and the percentage of bacterial infection in males that requires more accurate diagnosis and treatment to clarify such relationship. In the current study, males (patients, carriers, and controls) were more likely to have bacterial infections than females (64% vs. 36%). The 16 and 2 bacterial isolates, detected in 7 males and 2 females AKU patients, respectively revealed that male AKU patients had a 2.3-fold greater rate of bacterial infection than female AKU patients. Therefore, further studies are warranted to investigate if there's any relationship between higher incidence of bacterial infections and development of AKU-related clinical symptoms in the male population.
  • Untargeted NMR Metabolomics Reveals Alternative Biomarkers and Pathways in Alkaptonuria. [Journal Article]
    Int J Mol Sci. 2022 Dec 13; 23(24)Grasso D, Geminiani M, … Bernini A
  • Alkaptonuria (AKU) is an ultra-rare metabolic disease caused by the accumulation of homogentisic acid (HGA), an intermediate product of phenylalanine and tyrosine degradation. AKU patients carry variants within the gene coding for homogentisate-1,2-dioxygenase (HGD), which are responsible for reducing the enzyme catalytic activity and the consequent accumulation of HGA and formation of a dark pig…
  • StatPearls: Ocular Manifestations Of Alkaptonuria [BOOK]
    StatPearls. StatPearls Publishing: Treasure Island (FL)MoshirfarMajidMUniversity of Utah/John Moran Eye Center; Hoopes Vision/HDR Research Center; Utah Lions Eye BankKuangGrace T.GTUT McGovern Medical SchoolRonquilloYasmyneYHoopes Vision Research CenterBOOK
  • Alkaptonuria is a rare autosomal recessive disorder that arises from a mutation of the homogentisate 1,2-dioxygenase (HGD) gene, resulting in a deficiency of the enzyme HGD.[1] This enzyme plays a role in the phenylalanine and tyrosine degradation pathways by catabolizing the tyrosine intermediate metabolite homogentisic acid (HGA) into maleylacetoacetic acid (Figure 1).[2] Deficiency of the HGD …
  • Minocycline induced discoloration of the aortic intima and valve: A case report. [Case Reports]
    J Card Surg. 2022 Dec; 37(12):5548-5550.O'Connell A, El-Andari R, … Wang W
  • CONCLUSIONS: Given the rarity of this case, descriptions of cardiovascular ochronosis cases secondary to minocycline use are imperative in ensuring that it is on the differential diagnosis when identified by others in future cases. Additional care must be taken intraoperatively to ensure that the correct anatomy is identified as discoloration hinders visualization of the anatomy potentially resulting in unintentional consequences such as heart block or perivalvular leak as traditional visual cues for suture placement are distorted.
  • Alkaptunuria; a case report. [Case Reports]
    Int J Surg Case Rep. 2022 Nov; 100:107682.Elafram R, Ammou AB, … Sghaier M
  • CONCLUSIONS: Alkapyonuria is a very rare condition. Revealed by its orthopedic features is exceptionally. The patients, generally, need articulations replacement and the illness have no effect on its prognosis.
  • Analysis of the Phenotype Differences in Siblings with Alkaptonuria. [Journal Article]
    Metabolites. 2022 Oct 19; 12(10)Zatkova A, Olsson B, … Imrich R
  • Alkaptonuria (AKU) is a rare autosomal recessive disorder caused by mutations within a gene coding for homogentisate 1,2-dioxygenase (HGD). To date, 251 different variants of this gene have been reported. The metabolic disorder in AKU leads to the accumulation of homogentisic acid (HGA), resulting in ochronosis (pigmentation of the connective tissues) and severe ochronotic spondylo-arthropathy, w…
  • The Discovery of the Mode of Action of Nitisinone. [Review]
    Metabolites. 2022 Sep 25; 12(10)Lock EA
  • This review briefly discusses the discovery of the mode of action of the triketone herbicide, 2-(2-nitro-4-trifluormethylbenzoyl)-1,3-cyclohexanedione and its use as a drug Nitisinone for the treatment of inborn errors of tyrosine metabolism. Nitisinone is a potent reversible tight-binding inhibitor of the enzyme 4-hydroxyphenylpyruvate dioxygenase, involved in the catabolism of the amino acid ty…
  • Descemet's membrane folds in ochronosis: a case report. [Case Reports]
    J Med Case Rep. 2022 Oct 02; 16(1) Azevedo Magalhaes O, Abdel Rahman Abu Hwas D
  • CONCLUSIONS: This is the first report of Descemet's membrane folds in ochronosis. These corneal findings suggest that the accumulation of homogentisic acid in the sclera leads to thickening and stiffness of this region. These alterations could remarkably decrease visual acuity owing to topographic corneal curvature alterations, especially in elderly patients.
  • Determinants of tyrosinaemia during nitisinone therapy in alkaptonuria. [Journal Article]
    Sci Rep. 2022 09 27; 12(1):16083.Ranganath LR, Milan AM, … Olsson B
  • Nitisinone (NIT) produces inevitable but varying degree of tyrosinaemia. However, the understanding of the dynamic adaptive relationships within the tyrosine catabolic pathway has not been investigated fully. The objective of the study was to assess the contribution of protein intake, serum NIT (sNIT) and tyrosine pathway metabolites to nitisinone-induced tyrosinaemia in alkaptonuria (AKU). Sampl…
  • Ochronotic arthropathy in the context of spondyloarthritis differential diagnosis: a case-based review. [Case Reports]
    Rheumatol Int. 2022 12; 42(12):2277-2282.Kostova T, Batalov Z, … Batalov A
  • Alkaptonuria is a disease often forgotten because of its rarity. Its pathogenic mechanism is the deficiency of one of the enzymes of the tyrosine degradation pathway-homogentisate-1, 2-dioxygenase, which sequelae is accumulation and deposition of its metabolite homogentisic acid in connective tissues and urine. Alkaptonuria presents as a clinical triad-darkening urine upon prolonged exposure to a…
  • Adequacy of nitisinone for the management of alkaptonuria. [Journal Article]
    Ann Med Surg (Lond). 2022 Aug; 80:104340.Abbas K, Basit J, Rehman MEU
  • Alkaptonuria is a rare hereditary disease with a defective enzyme that results in increased homogentisic acid levels in the body. Homogentisic acid accumulates in multiple body parts and initializes tissue damage. Clinical manifestations such as pigmentation of the skin areas and joint destruction result in ochronosis. Nitisinone decreases serum and urinary homogentisic acid levels, improving mor…
  • StatPearls: Alkaptonuria [BOOK]
    StatPearls. StatPearls Publishing: Treasure Island (FL)SharabiAlaa F.AFUniversity of Science and Technology of YemenGoudarRaghavendra B.RBManipal Hospital BangaloreBOOK
  • Alkaptonuria is one of a rare autosomal recessive genetic disorder, which results from the deficiency of homogentisate 1,2 dioxygenase (HGD). HGD gene is expressed in the liver, kidney, prostate, small intestine, and colon.[1] This enzyme plays a role in the metabolism of tyrosine that converts homogentisic acid (HGA) into malate and acetoacetate. In the absence of HGD, homogentisic acid produced…
  • StatPearls: Ochronosis [BOOK]
    StatPearls. StatPearls Publishing: Treasure Island (FL)EfridiWajahatWDayton Interventional Radiology GroupDhamoonAmit S.ASSUNY Upstate Medical UniversityBOOK
  • Ochronosis is named for the reddish-brown hue of tissue termed "ochre-like" that was first described by a young physician named Archibald Garrod in the early-19th century. In what he called an "inborn error of metabolism," Archibald Garrod changed history when he coined that term for the obscure "black urine" disease, alkaptonuria. He proposed that ochronosis was due to deposition of a phenolic c…
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