Alkaptonuria diagnosed in a one year old boy: a case report

Dilanthi, Hewa Warawitage; Kularatnam, Grace Angeline Malarnangai; Jayasena, Subhashinie; Jasinge, Eresha; Silva, Shamya De

doi:10.4038/sljch.v45i4.8037

Cited by 2 publications

(2 citation statements)

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“…A study has been done in our institution previously to identify OA which was diagnosed solely by sending samples to overseas laboratories 14 . That study highlighted the fact that only one third were able to undergo confirmatory testing due to lack of diagnostic facilities.…”

Section: Discussionmentioning

confidence: 99%

Clinical and demographic characteristics of organic acidaemias in children in a tertiary care hospital in Sri Lanka: A 4-year experience in a single centre

Vidanapathirana,

Fernando,

Jayasena

et al. 2023

Sri Lanka J Child Health

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Background: Organic acidaemias (OAs) are a biochemically heterogeneous group of inborn errors of metabolism. They are rare and infrequently reported worldwide. Most OAs are clinically apparent in the neonatal period or early infancy while some can present as a chronic progressive form or even an asymptomatic form. Objectives: To describe the clinical presentation, demographic characteristics and the incidence of OAs in Sri Lankan children. Method: A retrospective descriptive cross-sectional study was conducted over a 4-year period by reviewing records of children suspected of having OAs referred to the Department of Chemical Pathology, Lady Ridgeway Hospital. Demographic information, clinical manifestations, biochemical investigations and mutational results were recorded and analysed using descriptive statistics. Definitive diagnosis was established by gas chromatography and mass spectroscopy (GC-MS) of urine for organic acids. Results: Among the 458 patients suspected, 20 (4.3%) were confirmed to have an OA resulting in an incidence of 13/319,000 live births per year. The mean ages at onset of symptoms and diagnosis were 11.8 months (range; day 1 to 5 years) and 27.1 months (range; day 10 to 12 years) respectively. Among the 20 patients were 5 (25%) with propionic acidaemia and 4 (20%) with beta-ketothiolase deficiency. Nineteen (95%) presented acutely. Common manifestations were respiratory distress in 12 (60%) and persistent or recurrent vomiting in 10 (50%). Learning difficulty, dyskinesia and macrocephaly were some chronic manifestations. Biochemically, 15 (75%) had acidosis and 9 (45%) had ketosis. There were 13 (65%) deaths of which 6 were neonates with acute presentation. Conclusions: Propionic acidaemia and beta-ketothiolase deficiency were the common OAs identified. Common clinical presentations were respiratory distress and persistent or recurrent vomiting. Acidosis was a common biochemical finding.

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Section: Discussionmentioning

confidence: 99%

Clinical and demographic characteristics of organic acidaemias in children in a tertiary care hospital in Sri Lanka: A 4-year experience in a single centre

Vidanapathirana,

Fernando,

Jayasena

et al. 2023

Sri Lanka J Child Health

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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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Alkaptonuria diagnosed in a one year old boy: a case report

Cited by 2 publications

References 1 publication

Clinical and demographic characteristics of organic acidaemias in children in a tertiary care hospital in Sri Lanka: A 4-year experience in a single centre

Clinical and demographic characteristics of organic acidaemias in children in a tertiary care hospital in Sri Lanka: A 4-year experience in a single centre

Alkaptonuria in an adolescent boy

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