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.
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Authors | Geminiganesan Sangeetha, Senthil Chandran, Swathi Ganesan, Jaippreetha Jayaraj |
Journal | BMJ case reports
(BMJ Case Rep)
Vol. 14
Issue 2
(Feb 04 2021)
ISSN: 1757-790X [Electronic] England |
PMID | 33541951
(Publication Type: Case Reports, Journal Article)
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Copyright | © BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ. |
Chemical References |
- Antioxidants
- Ascorbic Acid
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Topics |
- Adolescent
- Alkaptonuria
(diagnosis, genetics)
- Antioxidants
(administration & dosage)
- Ascorbic Acid
(administration & dosage)
- Disease Progression
- Early Diagnosis
- Humans
- Male
- Ochronosis
(complications)
- Sclera
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