Alkaptonuria (AKU) is an autosomal recessive condition arising as a result of a genetic
deficiency of the enzyme homogentisate 1, 2 dioxygenase and characterised by …

Incretins such as glucose-dependent insulinotropic polypeptide (GIP) and glucagon-like
peptide 1 (GLP-1) are intestinal hormones that are released in response to ingestion of …

Ochronosis is the process in alkaptonuria (AKU) that causes all the debilitating morbidity.
The process involves selective deposition of homogentisic acid (HGA)‐derived pigment in …

Background Hypoparathyroidism results in impaired mineral homoeostasis, including
hypocalcaemia and hyperphosphataemia. Treatment with high-dose oral calcium and active …

Background Alkaptonuria (AKU) is a serious genetic disease characterised by premature
spondyloarthropathy. Homogentisate-lowering therapy is being investigated for AKU …

Background In recent years the interest on the relationship of gut hormones to bone
processes has increased and represents one of the most interesting aspects in skeletal …

Background Alkaptonuria is a rare, genetic, multisystem disease characterised by the
accumulation of homogentisic acid (HGA). No HGA-lowering therapy has been approved to …

Alkaptonuria (AKU) is an autosomal recessive disorder caused by mutations in
homogentisate-1, 2-dioxygenase (HGD) gene leading to the deficiency of HGD enzyme …

Background Alkaptonuria (AKU) is a rare metabolic disease caused by deficiency of
homogentisate 1, 2 dioxygenase, an enzyme involved in tyrosine catabolism, resulting in …

Osteoporosis is the most common age-related bone disease worldwide and is usually
clinically asymptomatic until the first fracture happens. MicroRNAs are critical molecular …