Alkaptonuria: Case report

Khatu, Swapna S; More, Yuvraj E; Vankawala, Divyank; Chavan, Deepali; Gokhale, Neeta R

doi:10.4103/0975-2870.148860

Cited by 3 publications

(3 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…As a result, HGA converts to benzoquinone acetate by oxidation and benzoquinone acetate monomers combine to generate melanin-like polymers in the tissues (8). Because of the polymerization and oxidation reactions of HGA, the color of the urine may turn into black or dark brown (9). Additionally, the polymerized HGA forms bluish-black discoloration called "ochronosis" that could exist in different parts of the body, such as the ear, sclera (Osler sign), joint capsules, cartilage, tendons, and ligaments (10,11).Repeated dark brown or black discoloration of the urine during childhood is an important clue for the diagnosis; however, the prominent perspicuity of alkaptonuria in adults is a sign of arthritis (12).…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Alkaptonuria Diagnosed in a Geriatric Patient; A Case Report

Gündüz¹,

Üstün²,

Şan³

et al. 2020

tjgeri

View full text Add to dashboard Cite

Alkaptonuria is a hereditary and metabolic disease which is characterised by ocranosis, arthritis and aciduria. It is a rare clinical condition which has an estimated incidence varies from 1/ 250,000 to 1/1000000 live births. This autosomal recessive disorder occurs as a result of homogentisic acid dioxygenase enzyme deficiency which takes part in tyrosine metabolism. This case report aimed to present a geriatric patient who had diagnosed alkaptonuria. A 69 years old male was admitted to our department with knee-shoulder pain and range of motion (ROM) limitation. His medical history revealed that he had both mechanical and inflammatory joint pain for 22 years. The examination of his eyes were compatible with blue sclera and there was also bluish black discoloration on the ears. He had also hearing loss. Qualitative 24 hours collected urine examination showed dark black discoloration. The patient was diagnosed as alkaptonuria. A physical therapy programme were planned to the patient by our department. Clinicians should be aware of this pathology and the diagnosis should be confirmed by clinical, laboratory and radiological examinations.

show abstract

Section: Discussionmentioning

confidence: 99%

“…It is possible to determine the evidence of the disease by radiographic examination (11). X-ray findings comprise calcifications, narrowing of joint spaces, bony spurs, ankylosis and kyphosis (9,11).…”

Section: Discussionmentioning

confidence: 99%

Alkaptonuria Diagnosed in a Geriatric Patient; A Case Report

Gündüz¹,

Üstün²,

Şan³

et al. 2020

tjgeri

View full text Add to dashboard Cite

show abstract

“…Skin pigmentation, most pronounced on sun-exposed sites, ears and nose cartilages, areas of high eccrine sweat gland density becomes obvious in the 4 th decade. [ 2 ]…”

mentioning

confidence: 99%

Endogenous Ochronosis

Vadera

Someshwar

Salunke

2022

Indian Dermatology Online Journal

View full text Add to dashboard Cite

Alkaptonuria

Gupta

Sharma

Rani

2021

Clinical Dermatology Review

View full text Add to dashboard Cite

Alkaptonuria (AKU) is a multisystemic autosomal recessive disease due to deficiency of enzyme homogentisate dioxygenase leading to accumulation of homogentisic acid. Urine becoming dark on oxygenation or alkalinization is the first symptom but is often ignored. The patient usually presents with pigment deposition in connective tissue and cartilage after the third decade. This pigment deposition not only alters the aesthetics but also leads to alteration in the activity of different tissues due to inflammation and subsequent fibrosis or calcification. We are presenting an adult male who was asymptomatic till 5 years back when he started having backache for which he was taking analgesics off and was diagnosed to be having AKU at the age of 58 years.

show abstract

Alkaptonuria: Case report

Cited by 3 publications

References 0 publications

Alkaptonuria Diagnosed in a Geriatric Patient; A Case Report

Alkaptonuria Diagnosed in a Geriatric Patient; A Case Report

Endogenous Ochronosis

Alkaptonuria

Contact Info

Product

Resources

About