Alkaptonuria caused by compound heterozygote mutations

Elcioglu N., Aytug A., Muller C., Gurbuz O., Ergun T., Kotiloglu E., ...Daha Fazla

GENETIC COUNSELING, cilt.14, sa.2, ss.207-213, 2003 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 14 Sayı: 2
  • Basım Tarihi: 2003
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.207-213
  • Anahtar Kelimeler: alkaptonuria, homogentisic acid, compound heterozygosity, OCHRONOSIS, ALCAPTONURIA, GENE
  • Marmara Üniversitesi Adresli: Evet

Özet

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 much less than ochronotic pigment much greater than especially in connective tissue as a result of deficieny of the much less than homogentisic acid oxidase much greater than 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.