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Genetics of alkaptonuria – an overview
Acta Facultatis Pharmaceuticae Universitatis Comenianae
Alkaptonuria (AKU) is the first described inborn error of metabolism and a classical example of rare autosomal recessive disease. AKU patients carry homozygous or compound heterozygous mutations of the gene coding for enzyme homogentisate dioxygenase (HGD) involved in metabolism of tyrosine. The metabolic block in AKU causes accumulation of homogentisic acid (HGA) that, with advancing age of the patient, leads to severe and painful ochronotic arthropathy. HGD gene was mapped to chromosomedoi:10.1515/afpuc-2015-0021 fatcat:u7ns2ps3gvftzkwwbc4mpfmqpy