TREATMENTS &
RESEARCH

Search the
latest
treatment
information
here.

Dr. Huntley's
Diagnosis
Checklist

Have a symptom?
See what questions
a doctor would ask.

Next Prev

Diseases » Cystinuria » Glossary

Glossary for Cystinuria

$2p21 deletion syndrome$: This syndrome is a more severe form hypotonia-cystinuria syndrome as a larger portion of genetic material from chromosome 2p21 is deleted. It is characterized by infant seizures, reduced muscle tone, developmental delay, lactic acidosis and unusual facial appearance.
Aminoaciduria: A protein metabolism disorder where excess amino acids are present in the urine.
Blood in urine: Blood or blood-like discoloration of urine.
Cystine stone: A stone caused by a defect in cystine metabolism
Cystinosis: A rare biochemical disorder involving the accumulation of a chemical called cystine in various parts of the body which can cause harmful effects.
Homocystinuria: A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body.
Hypotonia-cystinuria syndrome: A genetic disorder characterized by reduced muscle tone, growth hormone deficiency and unusual facial appearance. Failure to thrive occurs during the first years of life but is replaced by rapid weight gain in later childhood. This syndrome is a milder form of the 2p21 deletion syndrome.
Jeune syndrome: A rare genetic disorder characterized by short limbs, underdeveloped iliac wings and a narrow rigid thoracic cage that often results in asphyxiation.
Kidney damage: Any damage that occurs to the kidneys
Kidney stones: Stone-like calcium deposits in the kidney.
Malabsorption: Failure to digest nutrients properly
Pain: A feeling of suffering, agony, distress caused by the stimulation of pain fibres in the nervous system
Short stature: A very rare syndrome characterized mainly by short stature and metabolic abnormality.
Urinary tract infections: Infection of the urinary system; usually bacterial.