Alkaptonuria caused by compound heterozygote mutations
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Updated: Sep 22, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
N H Elçioğlu1, A F Aytuğ, C R Müller
1Department of Pediatric Genetics, Marmara University Hospital, Istanbul, Turkey. nelcioglu@gmx.de
Abstract:
Alkaptonuria is a rare autosomal recessive disorder of inborn errors of metabolism. It is characterised by the deposition of "ochronotic pigment" especially in connective tissue as a result of deficieny of the "homogentisic acid oxidase" enzyme which has a role in the catabolism of tyrosine and phenylalanine. A compound heterozygote alkaptonuria patient, with manifestations in adulthood, without infantile and childhood signs is presented. The described alkaptonuria mutations are reported for the first time in the Turkish population.
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