Alkaptonuria in a 6 Year Old Patient: Case Report

Sharma, Vikas; Nerli, Rajendra B; Magdum, Prasad V.; Mudegoudra, Abhijith; Hiremath, Murigendra B

doi:10.1016/j.eucr.2015.07.013

Cited by 4 publications

(3 citation statements)

References 2 publications

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“…Most of the publications concerning children are retrospective analyses or case reports of early detection of AKU based on the darkening of urine over time due to homogentisic aciduria. [10][11][12][13][14] Therefore, in this study, we aimed to present a comprehensive clinical picture of pediatric AKU patients.…”

Section: Introductionmentioning

confidence: 99%

Clinical presentation of 13 children with alkaptonuria

Kujawa

Świętoń

Wierzba

et al. 2023

J of Inher Metab Disea

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Until now, only a few studies have focused on the early onset of symptoms of alkaptonuria (AKU) in the pediatric population. This prospective, longitudinal study is a comprehensive approach to the assessment of children with recognized AKU during childhood. The study includes data from 32 visits of 13 patients (five males, eight females; age 4–17 years) with AKU. A clinical evaluation was performed with particular attention to eye, ear, and skin pigmentation, musculoskeletal complaints, magnetic resonance imaging (MRI), and ultrasound (US) imaging abnormalities. The cognitive functioning and adaptive abilities were examined. Molecular genetic analyses were performed. The most common symptoms observed were dark urine (13/13), followed by joint pain (6/13), and dark ear wax (6/13). In 4 of 13 patients the values obtained in the KOOS‐child questionnaire were below the reference values. MRI and US did not show degenerative changes in knee cartilages. One child had nephrolithiasis. Almost half of the children with AKU (5/13) presented deficits in cognitive functioning and/or adaptive abilities. The most frequent HGD variants observed in the patients were c.481G>A (p.Gly161Arg) mutation and the c.240A>T (p.His80Gln) polymorphism. The newly described allele of the HGD gene (c.948G>T, p.Val316Phe) which is potentially pathogenic was identified.

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Section: Introductionmentioning

confidence: 99%

Clinical presentation of 13 children with alkaptonuria

Kujawa

Świętoń

Wierzba

et al. 2023

J of Inher Metab Disea

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“…The global prevalence of alkaptonuria is estimated to be 1 in every 250 000 live births 2. This condition is reported to be more prevalent in Slovakia and Dominican Republic,3 but there are very few paediatric cases reported 4–13. We report a rare presentation of a child presenting with blackish discoloration of urine along with early manifestation of hyperpigmented sclera and ear cartilage.…”

Section: Introductionmentioning

confidence: 85%

Alkaptonuria in an adolescent boy

et al. 2021

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Alkaptonuria is a rare genetic disorder resulting in abnormality of tyrosine metabolism. It is one of the Garrod’s tetrad of ‘inborn errors of metabolism’ proposed to have Mendelian recessive inheritance. The disorder is characterised by deposition of homogentisic acid leading to ochronosis and ochronotic osteoarthropathy; however, blackish discoloration of urine is the only childhood manifestation. Other manifestations present only after third decade. A 13-year-old boy presented to paediatric nephrology clinic with blackish discolouration of urine since infancy. Examination revealed bluish black discolouration of bilateral sclera and ear cartilage; however, he had no symptoms of ochronotic osteoarthropathy. Genetic test pointed towards alkaptonuria. Currently, he is on regular follow-up and is being treated with vitamin C to delay the progression of the disease. Early diagnosis with appropriate intervention delays the onset of complications and preserves the quality of life of the patient.

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“…Ochronosis affects different tissues in the body, predominantly skeletal system, although other systems, including cardiovascular, urinary, and auditory systems, may also be affected. 5 , 6 The involvement of breast in ochronosis is rare, and there are only few reports in the literature focusing on the histopathological features of the disease. 7 We present the clinical, radiological, and histological features of a case that had severe ochronosis involving her breasts.…”

Section: Introductionmentioning

confidence: 99%

Bilateral Breast Ochronosis: a Case Report

2021

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Ochronosis is a syndrome characterized by bluish black discoloration due to the deposition of polymerized products of homogentisic acid (HGA) in the connective tissues. The endogenous variety (alkaptonuria), is a rare autosomal recessive metabolic disorder. The disorder is manifested by deficiency of the enzyme homogentisate 1,2-dioxygenase. The characteristic of the condition is a triad of pigmentation of skin, cartilage, and sclera; ochronotic arthropathies and homogentisic aciduria (resulting in darkening of urine). More rarely, it may affect the breast. This rare and interesting case of a woman with ochronosis of both breasts and chest wall, prompted us to write this case report.

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Alkaptonuria in a 6 Year Old Patient: Case Report

Cited by 4 publications

References 2 publications

Clinical presentation of 13 children with alkaptonuria

Clinical presentation of 13 children with alkaptonuria

Alkaptonuria in an adolescent boy

Bilateral Breast Ochronosis: a Case Report

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