Horizon Pharma plc announced the launch of Cystinosis United, an initiative created for people living with nephropathic cystinosis, a rare genetic metabolic disease that causes the amino acid cystine
to accumulate in all organs of the body.
Methionine and cystine
are the first-limiting amino acids for fur animals, which have a significant effect on fur growth and quality (Dahlman et al.
We found statistically significant correlations between increased resistance to 5-fluorocytosine and higher activity of acid phosphatase; increased resistance to ketoconazole and higher activity of beta-glucuronidase; increased resistance to miconazole and higher activity of beta-glucosidase; increased resistance to itraconazole and higher activity of N-acetyl-beta-D-glucosidase, as well as increased susceptibility to itraconazole and higher enzymatic activity of cystine
arylamidase and naphthyl phosphohydrolase.
Cystinosis is a rare metabolic disease with autosomal recessive inheritance, (1) characterized by the accumulation of cystine
crystals in various tissues including the kidneys, bone marrow, pancreas, thyroid, muscle, brain, and eyes.
After percutaneous nephrolithotomy, stone analysis found a calcium oxalate (CaOX) stone in patient-1 and a cystine
stone in patient-2.
Each experimental diet was supplemented with crystalline methionine (Met), lysine (Lys), tryptophan (Trp), threonine (Thr), isoleucine (Ile), valine (Val), cystine
(Cys), and arginine (Arg) to meet the digestible amino acids (Dig AAs) profile .
Cystinuria is an autosomal recessive disorder in which the kidney, due to a genetic defect in the cystine
transporter, is unable to reabsorb cystine
in the proximal tubule, resulting in urinary hyperexcretion of amino acids cystine
, ornithine, lysine, and arginine (COLA).
crystal deposits start in the cornea and lead to increased sensitivity to light (photophobia) and corneal surface deterioration (keratopathy).
Pharmaceutical scientists in Sunderland have been awarded PS150,000 by the Cystinosis Foundation (CF) UK to support their research, which they hope will help them transform treatment for cystinosis, a devastating illness which occurs when the body becomes unable to process cystine
, an amino acid.
stones result from a rare genetic disorder that causes cystine
-- an amino acid, one of the building blocks of protein--to leak through the kidneys and into the urine to form crystals.
Zhou, Redox reactions of and transformation between cysteine-mercury thiolate and cystine
in metallothioneins adsorbed at a thin mercury film electrode, Langmuir 17, 4081 (2001).
while single principal group of supra gingival calculi resulted in lower levels of metal.