Description
Cystine is a neutral sulphur containing amino acid that is normally excreted through the kidneys and is involved in a variety of important cellular functions including detoxification, metabolism, and protein synthesis. Cystinosis is an inherited multisystemic disease resulting from failure of lysosomal cystine transport and the accumulation of cystine in the organs of affected individuals. Cystinosis is the most common inherited cause of renal Fanconi’s syndrome. The most severe form, infantile cystinosis, generally manifests between 6 and 12 months of age by fluid and electrolyte loss, aminoaciduria, glycosuria, phosphaturia, renal tubular acidosis, rickets and growth retardation.
Indications
Cystinosis causes widespread organ damage with ocular, endocrinological, hepatic, muscular and central nervous system complications. It is characterised by excessive amounts of cystine in urine.
Sample Type, Quantity & Conditions
20 ml of 24 Hrs Urine Refrigerated
Special Precautions
Do not add acid or other preservatives to the sample.
Normal Range
Negative
