Article Text

Download PDFPDF
Alkaptonuria in an adolescent boy
  1. Geminiganesan Sangeetha1,
  2. Senthil Chandran2,
  3. Swathi Ganesan3 and
  4. Jaippreetha Jayaraj3
  1. 1Pediatrics, Sri Ramachandra University Medical College, Chennai, Tamilnadu, India
  2. 2General Medicine, ACS Medical College and Hospital, Chennai, Tamil Nadu, India
  3. 3MBBS, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India
  1. Correspondence to Dr Geminiganesan Sangeetha; sangeethaperungo{at}gmail.com

Abstract

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.

  • genetics
  • pathology

Statistics from Altmetric.com

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Footnotes

  • Contributors SG and SC contributed to the planning, literature review, drafting, editing and submission of this work. SG and JJ generated the idea for publication, and contributed equally to the planning, case review, drafting and editing of this work.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Parental/guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.