Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria
Zeinab S. Abdelkhalek,
Iman G. Mahmoud,
Heba Omair
et al.
Abstract:Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder caused by pathogenic variants in the homogentisate 1,2-dioxygenase (HGD) gene. This leads to a deficient HGD enzyme with the consequent accumulation of homogentisic acid (HGA) in different tissues causing complications in various organs, particularly in joints, heart valves and kidneys. The genetic basis of AKU in Egypt is completely unknown. We evaluated the clinical and genetic spectrum of six pediatric and adolescents AKU patients from four… Show more
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