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Indian Journal of Maternal-Fetal & Neonatal Medicine 4(2):p 212-213, Jul-Dec 2017. | DOI: http://dx.doi.org/10.21088/ijmfnm.2347.999X.4217.19
Case Report
A Case Report of Diaper Staining Since Birth: Rare Metabolic Disorder Alkaptonur
Neha Agarwal, Lecturer Department of Pediatrics, GSVM Medical College, Kanpur208002, Uttar Pradesh, India. , Deeksha Shakywal1 , Neha Agarwal2 , Amitesh Yadav2 , Yashwant K. Rao3
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Indian Journal of Maternal-Fetal & Neonatal Medicine 4(2):p 212-213, Jul-Dec 2017. | DOI: http://dx.doi.org/10.21088/ijmfnm.2347.999X.4217.19
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Abstract
Alkaptonuria is a rare metabolic autosomal recessive disorder caused by deficiency of homogentisic acid oxidase [1]. A three old female child presented with history of staining of diaper since birth and during treatment underwent battery of scanning and investigations. Diagnosis was suspected when urine turned black when kept in a sterile container. Her urine examination showed homogentisic acid. Patient was diagnosed alkaptonuria.
Keywords: Genetic Disorder; Alkaptonuria.
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DOI: http://dx.doi.org/10.21088/ijmfnm.2347.999X.4217.19
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