Alkaptonuria caused by compound heterozygote mutations.
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.
Elçioğlu
N H
NH
Department of Pediatric Genetics, Marmara University Hospital, Istanbul, Turkey. nelcioglu@gmx.de
Aytuğ
A F
AF
Müller
C R
CR
Gürbüz
O
O
Ergun
T
T
Kotiloğlu
E
E
Elçioğlu
M
M
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
D006713:Homogentisic Acid