1.
Genet Couns
; 14(2): 207-13, 2003.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12872815
RESUMO
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.