Alkaptonuria is often diagnosed clinically with episodes of dark urine, biochemically by the accumulation of peripheral homogentisic acid and molecularly by the presence of mutations in the homogentisate 1,2-dioxygenase gene (HGD). Alkaptonuria is invariably associated with HGD mutations, which consist of single nucleotide variants and small insertions/deletions. Surprisingly, the presence of d...

M-81, a new water-soluble basic peptide antibiotic, was isolated from the culture filtrate of Streptomyces griseus subsp. psychrophilus AKU 2881, which produces cryomycin only at low temperatures. M-81 was produced at 20-37°C, but not below 20 C. M-81 was active against some Gram-positive bacteria. Its antimicrobial spectrum is more limited than those of cryomycin. It darkens at 208°-213°C with...

Alkaptonuria (AKU), the prototypic inborn error of metabolism, was the first human disease to be interpreted as a Mendelian trait by Garrod and Bateson at the beginning of last century. AKU results from impaired function of homogentisate dioxygenase (HGO), an enzyme required for the catabolism of phenylalanine and tyrosine. With the novel 7 AKU and 22 fungal mutations reported here, a total of ...

Alkaptonuria is a rare autosomal recessive disorder of metabolism caused by deficiency of homogentisic acid oxidase and resulting in accumulation of homogentisic acid in collagenous structures. This causes the classic clinical triad: (1) homogentisic aciduria (urine blackens on standing when oxidized or alkalinized); (2) eumelanin-like pigmentation of skin, sclera, cartilages, etc and (3) degen...

normally retained in the body because of its high renal clearance; the absence of the HGD enzyme leads to abundant urinary excretion of homogentisic acid, which darkens slowly upon oxidation by prolonged exposure to air. The darkening is hastened by the addition of alkali to the urine and is reflected in the original term for homogentisic acid, alkapton, which refers to its avidity for alkali. ...

Alkaptonuria is a rare metabolic disease in which a deficiency of the enzyme homogentisate dioxygenase causes an accumulation of homogentisic acid. Ochronosis consists of excessive deposition of homogentisic acid in the connective tissue and presents as a chestnut brown or black pigmentation. With aging, the accumulation of pigments from homogentisic acid in the joints causes osteoarthrosis. Th...

Alkaptonuria (AKU) is an orphan inherited homogentisate dioxygenase enzyme deficiency resulting in accumulation of homogentisic acid (HGA). HGA is converted to a black pigment polymer known as ochronosis that causes tissue damage affecting many tissues including joints and heart, with significant poor quality of life. The DevelopAKUre project is a Europe-wide collaboration to study the efficacy...