Article thumbnail
Location of Repository

Alkaptonuria diagnosed in a 4-month-old baby girl: a case report

By Asok K Datta, Syamali Mandal, Anindya Dasgupta and Tarun K Ghosh


The mother of a four month old female baby attended in the well baby clinic with the complaint of black staining of the diaper after few minutes of urination. The baby was born of a non consanguineous marriage, healthy and breast fed. Mother noticed that stain first at the age of two and half month. The urine when kept in a test tube for two hours turned black. Laboratory examination of urine revealed increased concentration of homogentisic acid. The patient was diagnosed as alkaptonuria

Topics: Case Report
Publisher: BioMed Central
OAI identifier:
Provided by: PubMed Central

Suggested articles


  1. (2006). Chang HC: Bilateral spontaneous rupture of quadriceps tendon as an initial presentation of alkaptonuria-a case report. Knee
  2. (2005). Early detection of Alkaptonuria.
  3. (2008). Hadj Hamida F: Ocular ochronosis. A case report: J Fr Ophthalmol
  4. Iraj Rezvani: Defects in metabolism of amino acids: Tyrosine.
  5. (1999). Seemanova E, Kress W: Allelic heterogeneity of Alkaptonuria in Central Europe.
  6. (2002). Srsnova K: Alkaptonuria in Slovakia: 32 years research on phenotype and genotype. Mol Genet Metab
  7. (2008). Tillmanns H: Aortic valve stenosis due to Alkaptonuria. J Heart Valve Dis

To submit an update or takedown request for this paper, please submit an Update/Correction/Removal Request.