Article
Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan.
BioMed research international - 1 Jan 2021
Khalil Raida, Ali Dema, Mwafi Nesrin, Alsaraireh Arwa, Obeidat Loiy, Albsoul Eman, Al Sbou' Ibrahim
Abstract excerpt
BACKGROUND: Metabolic disorder alkaptonuria is an autosomal recessive disorder caused by mutations in the HGD gene, and a deficiency HGD enzyme activity results in an accumulation of homogentisic acid (HGA), ochronosis, and destruction of connective tissue. METHODS: We clinically evaluated 18 alkaptonuria patients (age range, 3 to 60 years) from four unrelated families. Furthermore, 11 out of 18 alkaptonuria...
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