Results 31 to 40 of about 2,511,484 (202)
An Uncommon Clinical Presentation of a Rare Disease-Alkaptonuria: Case Report
Pakistan Armed Forces Medical Journal, 2023 Palmoplantar pigmentation is a rare clinical presentation of alkaptonuria, a rare inborn error of phenylalanine and tyrosine metabolism. Alkaptonuria occurs owing to a deficiency of an enzyme homogentisic acid oxidase inherited as an autosomal ...
Umar Abdul Ali Qureshi +1 more
doaj +1 more source
The role of melanin production in the survival of Vibrio cholerae in the marine environment [PDF]
, 2006 Word processed copy.Includes bibliographical references (p. 141-165).The marine bacterium Vibrio cholerae produces pyomelanin through the catabolism of L-tyrosine to homogentisic acid.
Paul, Lynthia Vivienne
core +1 more source
An Unusual Presentation of Ochronosis with Palmar Pigmentation [PDF]
Journal of Clinical and Diagnostic Research, 2019 Ochronosis is the deposition of homogentisic acid in connective tissues resulting in bluish black discolouration. Hereby a case of ochronosis over the palmar surface of hand in 41-year-old male patient has been reported.
Mohan Rao Nandam +4 more
doaj +1 more source
Urinary Homogentisic Acid in Alkaptonuric and Healthy Children [PDF]
Clinical Chemistry and Laboratory Medicine, 2003 To detect and follow-up the metabolic status of patients with alkaptonuria (AKU), urinary homogentisic acid (HGA) was measured by gas chromatography. These results were close to values we obtained by colorimetric method (linearity: upto 700 mg/l, detection limit: 1 mg/l, within-run imprecision (CV): 1.2% at 100 mg/l HGA, 4.9% at 10 mg/l, between-run CV:
Anna V, Oláh +5 more
openaire +2 more sources
Medical Journal of Dr. D.Y. Patil University, 2015 Alkaptonuria is a rare, autosomal-recessive disorder of phenylalanine/tyrosine metabolism due to congenital deficiency of the enzyme homogentisic acid oxidase. Herein, we are reporting a classical case of alkaptonuria with extensive skin pigmentation and
Swapna S Khatu +4 more
doaj +1 more source
, 2001 Yarrowia lipolytica produces brown extracellular pigments that correlate with tyrosine catabolism. During tyrosine depletion, the yeast accumulated homogentisic acid, p -hydroxyphenylethanol, and p
Alexandra Carreira +2 more
core +1 more source
Knee ochronotic arthropathy and arthroscopic findings
Acta Orthopaedica et Traumatologica Turcica, 2020 Ochronotic arthropathy is a rare condition found in patients with alkaptonuria which is a hereditary metabolic disease associated with deposition of homogentisic acid derivatives in the articular cartilage, menisci, ligaments, and connective tissues due ...
Cemal Kural +4 more
doaj +1 more source
Serum concentrations and urinary excretion of homogentisic acid and tyrosine in normal subjects
, 2014 Alkaptonuria (AKU) is a rare, inherited metabolic disease of tyrosine metabolism. Degradation of tyrosine is blocked at the level of homogentisic acid (HGA) due to a congenital lack of the enzyme homogentisate 1,2-dioxygenase.
Hughes, AT +4 more
core +5 more sources
Alkaptonuria: A rare cause of recurrent severe back pain in the emergency department [PDF]
Journal of Emergency Medicine, Trauma and Acute Care, 2012 We report a 45 year-old male patient who presented to the emergency department of Hamad General Hospital with recurrent severe low back pain. Clinical examination revealed characteristic deposition of blue-brownish pigment in the sclera and ear.
MSeidahmed +2 more
doaj +1 more source
Indian Journal of Dermatology, 2011 A case of alkaptonuria, a rare disorder with autosomal recessive inheritance, is reported here. The patient had palmar pigmentation in addition to the usual features of alkaptonuria.
G K Tharini +4 more
doaj +1 more source