Alkaptonuria

Tharini, GK; Ravindran, Vidhya; Hema, N; Prabhavathy, D; Parveen, B

doi:10.4103/0019-5154.80415

Cited by 18 publications

(18 citation statements)

References 3 publications

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“…Several studies aimed to reduce oxidative stress (for instance,, low tyrosine and phenylalanine diet, supplementation of vitamin C, or antioxidants administration) but without altering the AKU basic metabolic defect (56)(57)(58)). This predictive system will allow for the easy monitoring of oxidative stress evolution in every patient with AKU that is crucial in a chronic but not lethal disease like AKU, and it could be a good starting point in order to help clinicians in the selection of the most appropriate antioxidant treatment and in the monitoring of its efficacy by observing the trend of PTI levels (being that, actually, no credible studies have shown a significant clinical efficacy so far) (59)(60)(61). This computational method will allow for a reduction in the number of experimental studies, focusingattention on onlythe most promising treatments.…”

Section: Discussionmentioning

confidence: 99%

Interactive alkaptonuria database: investigating clinical data to improve patient care in a rare disease

Cicaloni

Spiga

Dimitri³

et al. 2019

The FASEB Journal

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Alkaptonuria (AKU) is an ultrarare autosomal recessive disorder (MIM 203500) that is caused byby a complex set of mutations in homogentisate 1,2‐dioxygenasegene and consequent accumulation of homogentisic acid (HGA), causing a significant protein oxidation. A secondary form of amyloidosis was identified in AKU and related to high circulating serum amyloid A (SAA) levels, which are linked with inflammation and oxidative stress and might contribute to disease progression and patients' poor quality of life. Recently, we reported that inflammatory markers (SAA and chitotriosidase) and oxidative stress markers (protein thiolation index) might be disease activity markers in AKU. Thanks to an international network, we collected genotypic, phenotypic, and clinical data from more than 200 patients with AKU. These data are currently stored in our AKU database, named ApreciseKUre. In this work, we developed an algorithm able to make predictions about the oxidative status trend of each patient with AKU based on 55 predictors, namely circulating HGA, body mass index, total cholesterol, SAA, and chitotriosidase. Our general aim is to integrate the data of apparently heterogeneous patients with AKUAKU by using specific bioinformatics tools, in order to identify pivotal mechanisms involved in AKU for a preventive, predictive, and personalized medicine approach to AKU.—Cicaloni, V., Spiga, O., Dimitri, G. M., Maiocchi, R., Millucci, L., Giustarini, D., Bernardini, G., Bernini, A., Marzocchi, B., Braconi, D., Santucci, A. Interactive alkaptonuria database: investigating clinical data to improve patient care in a rare disease. FASEB J. 33, 12696–12703 (2019). http://www.fasebj.org

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Section: Discussionmentioning

confidence: 99%

Interactive alkaptonuria database: investigating clinical data to improve patient care in a rare disease

Cicaloni

Spiga

Dimitri³

et al. 2019

The FASEB Journal

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“…Though few scattered cases have been reported from India, but this seems to be a tip of the iceberg for the prevalence of this disease in India [4][5][6][7][8][9]. We report a second case of the AKU Family from Hangarki village of Dharwad District having multiple sufferers due to inheritance.…”

Section: Introductionmentioning

confidence: 91%

Alkaptonuria: A Case of Familial Inheritance from Hangarki Village in Dharwad District of Karnataka

Trivedi

Naik

2015

Ind J Clin Biochem

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Alkaptonuria is a genetic disorder, unknown to the general public and ignored by general physicians due to lack of awareness of its high prevalence. Increasing incidences of familial inheritance are recorded. A 41 years 8 months male with the swollen knee, chronic mechanical pain, restricted limping walk and tingling sensation in the limb. Also, has a complaint of the stiffness of back in the morning, which gets relieved by movement. Mild hyper pigmentation of pinna and sclera of eye. X-ray report reveals osteoarthritis of the knee and thoracic kyphosis. After considering clinical finding, report of radiological investigation and Biochemical test results, patient was diagnosed as a case of Alkaptonuria. Screening of entire family revealed a typical case of familial inheritance. Hidden familial inheritance can be disclosed by mass screening of families and medical awareness.

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“…As the polymer accumulates within cartilage (Tharini et al, 2011), a process that takes many years, the normally transparent tissues become slate blue, an effect ordinarily not seen until adulthood (Verma, 2005).…”

Section: Discussionmentioning

confidence: 99%

Mutation Screening of theHGDGene Identifies a Novel Alkaptonuria Mutation with Significant Founder Effect and High Prevalence

Sakthivel

Zaťková

Nemethova

et al. 2014

Annals of Human Genetics

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SummaryAlkaptonuria (AKU) is an autosomal recessive disorder; caused by the mutations in the homogentisate 1, 2-dioxygenase (HGD) gene located on Chromosome 3q13.33. AKU is a rare disorder with an incidence of 1: 250,000 to 1: 1,000,000, but Slovakia and the Dominican Republic have a relatively higher incidence of 1: 19,000. Our study focused on studying the frequency of AKU and identification of HGD gene mutations in nomads. HGD gene sequencing was used to identify the mutations in alkaptonurics. For the past four years, from subjects suspected to be clinically affected, we found 16 positive cases among a randomly selected cohort of 41 Indian nomads (Narikuravar) settled in the specific area of Tamil Nadu, India. HGD gene mutation analysis showed that 11 of these patients carry the same homozygous splicing mutation c.87 + 1G > A; in five cases, this mutation was found to be heterozygous, while the second AKU-causing mutation was not identified in these patients. This result indicates that the founder effect and high degree of consanguineous marriages have contributed to AKU among nomads. Eleven positive samples were homozygous for a novel mutation c.87 + 1G > A, that abolishes an intron 2 donor splice site and most likely causes skipping of exon 2. The prevalence of AKU observed earlier seems to be highly increased in people of nomadic origin.

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Alkaptonuria

Abstract: 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.

Cited by 18 publications

References 3 publications

Interactive alkaptonuria database: investigating clinical data to improve patient care in a rare disease

Interactive alkaptonuria database: investigating clinical data to improve patient care in a rare disease

Alkaptonuria: A Case of Familial Inheritance from Hangarki Village in Dharwad District of Karnataka

Mutation Screening of theHGDGene Identifies a Novel Alkaptonuria Mutation with Significant Founder Effect and High Prevalence

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