The degradation of the aromatic amino acids normally follows the pathway (see Fig. A47 ): Figure A47. Alkaptonuria The accumulated homogentisic acid in AKU is excreted in urine and is readily oxidized into a dark compound (see on the cornea: see Fig. A48 ), alkapton, staining dark already...
HGD converts homogentisic acid (HGA) into maleylacetoacetic acid in the tyrosine metabolism pathway, therefore HGD deficiency leads to HGA accumulation in the blood and tissues, despite efficient urinary excretion. This excess HGA eventually leads to the formation and deposition of a dark pigment ...
The DevelopAKUre project is underway to test nitisinone as a specific treatment to counteract this derangement of the phenylalanine-tyrosine catabolic pathway. We analysed DNA of 40 AKU patients enrolled for SONIA1, the first study in DevelopAKUre, and of 59 other AKU patients sent to our ...
Alkaptonuria is an iconic rare inherited inborn error of metabolism affecting the tyrosine metabolic pathway, resulting in the accumulation of homogentisic acid in the circulation, and significant excretion in urine. Dating as far back as 1500 BC in the Egyptian mummy Harwa, homogentisic acid was ...
Alkaptonuria (AKU) is an ultra-rare inherited inborn error of metabolism that afflicts the tyrosine metabolic pathway, resulting in the accumulation of homogentisic acid (HGA) in the circulation, and significant excretion in urine. Clinical manifestations, typically observed from the third decade of ...
The disease, which is autosomal recessive, results from a decreased amount of the enzyme homogentisic acid oxidase, due to which tyrosine and phenylalanine cannot be broken down via the normal pathway. The diagnosis is made by determination of urinary homogentisic acid excretion, as the clinical ...
Delayed EnhancementHomogentisic AcidBackground Alkaptonuria is a rare autosomal recessive metabolic disorder with an incidence of 1 case in 250,000 to 1 million live births. This genetic abnormality involves the tyrosine metabolism pathway which results in homogentisic acid accumulation throughout various ...
The disease, which is autosomal recessive, results from a decreased amount of the enzyme homogentisic acid oxidase, due to which tyrosine and phenylalanine cannot be broken down via the normal pathway. The diagnosis is made by determination of urinary homogentisic acid excretion, as the clinical ...
Alkaptonuria is an autosomal recessive disease involving a deficiency of the enzyme homogentisate dioxygenase, which is involved in the tyrosine degradation pathway. The enzymatic deficiency results in high concentrations of homogentisic acid (HGA), which results in orthopedic and cardiac complications, ...
For over two decades, nitisinone (NTBC) has been successfully used to manipulate the tyrosine degradation pathway and save the lives of many children with hereditary tyrosinaemia type 1. More recently, NTBC has been used to halt homogentisic acid accumulation in alkaptonuria (AKU) with evidence...