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. 2008 Nov 13;1(1):308.
doi: 10.1186/1757-1626-1-308.

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

Asok K Datta  1 , Syamali Mandal, Anindya Dasgupta, Tarun K Ghosh
Affiliations

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

Asok K Datta et al. Cases J. .

Abstract

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.

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Figures

Figure 1
Figure 1
Intermediates in Tyrosine metabolism is shown. Homogentisate oxidase1 which converts thomogentisate to maleyl acetoacetate is deficient in alkaptonuria. 4-Hydroxy phenyl pyruvate Hydroxylase2 can be blocked by the newer drug Nitisinone. In that case there is definite rise of phenylalanine and tyrosine level in blood which is harmful. The drug is not recommended till date for pediatric use.
Figure 2
Figure 2
Qualitative assay of homogentisic acid: To 0.5 ml of sample few drops of 10% ammonia was added followed by addition of 3% silver nitrate solution. Development of greenish black color signified presence of substantial amount of homogentisic acid. The test tube in the centre is the control one.
See this image and copyright information in PMC

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