Alkaptonuria: Case Report and Review of the Literature

Alessa, Mohammed; Al-Shamsan, Layla A.; Rashed, Mohamed; Özand, Pinar

doi:10.5144/0256-4947.1998.442

Cited by 8 publications

(6 citation statements)

References 22 publications

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“…Ascorbic acid prevents the effects of HGA on joints. 2 Nitisinone has been proposed as potential therapy because it inhibits the enzyme that produces HGA but at present it is still under trial and use is limited to adult alkaptonuric patients.…”

Section: Discussionmentioning

confidence: 99%

Alkaptonuria in a 6 Year Old Patient: Case Report

Sharma

Nerli

Magdum

et al. 2015

Urology Case Reports

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Section: Discussionmentioning

confidence: 99%

Alkaptonuria in a 6 Year Old Patient: Case Report

Sharma

Nerli

Magdum

et al. 2015

Urology Case Reports

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“…The prevalence in the Arab population is unknown and the present study is the first such study in the Arab world. There have previously been case reports from Saudi Arabia (Hamdi et al 1999; Al Essa et al 1998): i.e. one report in which 2 cases were described but it is not clear whether the patients were from a Saudi family, other Arabs or non‐Arabs (Hamdi et al 1999), and another report on a single case (Al Essa et al 1998).…”

Section: Discussionmentioning

confidence: 99%

R58fs Mutation in the HGD Gene in a Family with Alkaptonuria in the UAE

Abdulrazzaq

Aliyu

Alkhayat

et al. 2009

Annals of Human Genetics

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SummaryThis study was conducted to determine the prevalence of alkaptonuria in the UAE population and to identify the genotype of affected individuals. In a 3 stage sampling technique 2981 pupils from Government schools in Al Ain and private schools in Dubai were selected to take part in the study, of whom 2857 provided urine samples. Urine collected was analysed for homogentisic acid by gas chromatography-mass spectrometry. Genomic DNA was isolated from the white blood cells of all family members of the affected case following standard established protocols. Specific PRC primers were designed to amplify all 14 exons of the HGD gene with the flanking intronic sequences including the splice site sequences. 2857 children returned a viable urine sample, of which one was highly positive for homogentisic acid. All 12 members of this girl's family were studied and one, a 22 year old brother, was found to excrete HGA. Another, a sister who had not provided a urine sample, was discovered by genetic testing. There were no complaints of joint pain or other symptoms in any member of this family. Parents were first cousins. We found a single nucleotide deletion c.342delA, located in exon 3, which resulted in a frameshift at amino acid position 58 (p.Arg58fs or p.R58fs). Alkaptonuria may be more common than it is thought to be with an allele prevalence estimated at 0.0107 (95% CI 0.000392 -0.03473) . The R58fs mutation is old, perhaps having occurred several thousand years ago, and has spread over a large geographical area.

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“…The urine when allowed to stand darkens as a result of oxidation of the homogentisic acid. Homogentisic acid can also be measured by enzymatic spectrophotometry and gas liquid chromatography to aid the diagnosis and follow up 2 . The excessive homogentisic acid is polymerized to form an ocher colored pigment (hence the term ochronosis), which then gets deposited in tissues with a predilection for cartilaginous tissues resulting in arthropathy and the discoloration of ear pinnae seen in alkaptonuria 3 …”

Section: Discussionmentioning

confidence: 99%

“…The disease is almost asymptomatic in early life with the arthropathy and cardiovascular symptoms appearing in the third, fourth, or later decades of life. Arthropathy is the most common clinical presentation of alkaptonuria and often mimics ankylosing spondylitis because of the involvement of weight bearing joints along with the spine 2 . Extraarticular involvement manifests as speckled discoloration of skin, scleral pigmentation, and cardiovascular involvement.…”

Section: Discussionmentioning

confidence: 99%

Ochronosis and Aortic Valve Stenosis

et al. 2006

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Valvular heart disease has numerous etiologies. These range from congenital malformations to infectious and degenerative diseases. Clinically, these result in significant problems, the management of which can necessitate valve replacement with prosthetic heart valves. A rare cause is the deposition of foreign material in the valvular tissues, and these include inborn errors of metabolism of the essential amino acids. Alkaptonuria, an autosomal recessive trait, can result in the accumulation of excess homogentisic acid. This can manifest as pigmentation in the skin and other tissues, including heart valves. Accumulation of this pigment can lead to an inflammatory reaction and to progressive valve dysfunction.

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Alkaptonuria: Case Report and Review of the Literature

Cited by 8 publications

References 22 publications

Alkaptonuria in a 6 Year Old Patient: Case Report

Alkaptonuria in a 6 Year Old Patient: Case Report

R58fs Mutation in the HGD Gene in a Family with Alkaptonuria in the UAE

Ochronosis and Aortic Valve Stenosis

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