Alkaptonuria is a rare inborn error of metabolism caused by the deficiency of homogentisate
1, 2-dioxygenase activity. The consequent homogentisic acid (HGA) accumulation in body …

Abstract “Fundamental diseases” is a term introduced by the charity Findacure to describe
rare genetic disorders that are gateways to understanding common conditions and human …

Alkaptonuria (AKU) is a very rare autosomal recessive disorder of tyrosine metabolism in the
liver due to deficiency of homogentisate 1, 2 dioxygenase (HGD) activity, resulting in the …

Alkaptonuria (AKU) is a rare inborn metabolic disease characterized by accumulation of
homogentisic acid (HGA). Excretion of HGA in urine causes darkening of urine and its …

Background The aim of the current study was to determine whether there is an association
between alkaptonuria (AKU) and urinary tract infection (UTI) by exploring the bacterial …

Alkaptonuria (AKU) is a rare inborn error of metabolism caused by a defective
homogentisate 1, 2-dioxygenase (HGD), an enzyme involved in the tyrosine degradation …

The disease is characterized by necrosis and remodeling of cartilage including growth
plates. Clinical features of Kashin-Beck disease include generalized osteoarthropathy …

Osteoarthritis (OA) is one of the major causes of disability and pain worldwide, yet despite a
massive international research effort, no effective disease-modifying drugs have been …

Introduction We present a case of Alkaptonuria (AKU) presented with severe lower urinary
tract symptoms (LUTS) secondary to extensive prostatic calculi deposited in the para …

Importance Alkaptonuric shoulder arthropathy is a challenging clinical entity in arthroplasty.
In this report, we describe an atypical presentation, technical considerations, a literature …