title: Alkaptonuria caused by compound heterozygote mutations.
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.
authors.affiliation: Department of Pediatric Genetics, Marmara University Hospital, Istanbul, Turkey. nelcioglu@gmx.de
authors.forename: N H
authors.initials: NH
authors.lastname: Elçioğlu
authors.forename: A F
authors.initials: AF
authors.lastname: Aytuğ
authors.forename: C R
authors.initials: CR
authors.lastname: Müller
authors.forename: O
authors.initials: O
authors.lastname: Gürbüz
authors.forename: T
authors.initials: T
authors.lastname: Ergun
authors.forename: E
authors.initials: E
authors.lastname: Kotiloğlu
authors.forename: M
authors.initials: M
authors.lastname: Elçioğlu
mesh_terms: D000328:Adult; D000474:Alkaptonuria / Q000235:genetics* / Q000378:metabolism; D001706:Biopsy; D005091:Exons; D005145:Face; D006579:Heterozygote; D006713:Homogentisic Acid / Q000378:metabolism; D006801:Humans; D008297:Male; D009794:Ochronosis / Q000235:genetics / Q000378:metabolism; D017354:Point Mutation / Q000235:genetics*; D011859:Radiography; D012867:Skin / Q000473:pathology; D013128:Spinal Osteophytosis / Q000000981:diagnostic imaging / Q000235:genetics
chemical_list: D006713:Homogentisic Acid