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Diseases » Aminoaciduria » Glossary

Glossary for Aminoaciduria

Abderhalden-Kaufmann-Lignac syndrome: A rare inherited childhood disorder involving deposits of cystine crystals in various parts of the body, especially the conjunctiva and cornea.
Acute tubulointerstitial nephritis and uveitis syndrome: The association of a sudden kidney disorder with eye inflammation. Autoimmune processes are believed to be involved.
Alkaptonuria: A rare disorder where the abnormal accumulation of a particular acid (homogentisic acid) in the body causes connective tissue and bone damage. This damage gives tissues a dark or bluish discoloration.
Arginase deficiency: A very rare urea cycle disorder caused by a deficiency of the enzyme (arginase) needed to convert ammonia to the urea which can then be removed in the urine. The condition leads to excess build-up of ammonia in the body which is toxic to the nervous system.
Chromosome 4, Monosomy 4q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 4 is missing resulting in various abnormalities.
Dent syndrome: A rare X-linked inherited kidney disorder involving kidney tubule damage resulting in progressive kidney dysfunction.
Dent's disease: A rare kidney disease inherited in a X-linked manner. It involves kidney tubule damage which results in progressive kidney dysfunction. There are two types of Dent's disease and they differ in the origin of the genetic defect.
Dibasic aminoaciduria type 1: A rare disorder where the kidney excretes excessive amounts of certain amino acids (lysine, ornithine and arginine.
Iminoglycinuria: A genetic disorder where dysfunctional kidney tubules can't reabsorb certain aminoacids (proline, hydroxyproline and glycine) and hence it is excreted in the urine. The condition is generally asymptomatic other than the urinary excretion of various amino acids.
Leucinosis: A term used to describe high levels of leucine in the body. It is associated with a metabolic disorder called maple syrup urine disease where there is a deficiency of an enzyme needed to break down leucine so it builds up within the body.
Lowe Syndrome: An X linked condition characterized by vitamin D deficiency and causing an oculocerebrorenal syndrome
Maple syrup urine disease: A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Other milder variants of the disease do exist and tend to occur as late as childhood. Even mild form can result in mental and physical retardation if untreated.
Metabolic disorders: Disorders that affect the metabolic system in human
Nephrolithiasis type 1: A rare X-linked inherited kidney disorder involving kidney tubule damage resulting in progressive kidney dysfunction. The disorder is caused by a genetic mutation on chromosome Xp11.22.
Nephrolithiasis type 2: A rare X-linked inherited kidney disorder involving kidney tubule damage resulting in progressive kidney dysfunction. The disorder is caused by a genetic mutation on chromosome Xq26.1.
Periodic hyperlysinemia: A rare genetic disorder where the body lacks enzymes to metabolize lysine which then causes a harmful builds up of lysine and ammonia in the body.
Proximal Renal Tubular Acidosis: This is a condition that is characterised by a metabolic acidosis state caused by impairment of a persons renal function
Renal disorder: disease affecting the kidneys
Thiamine responsive megaloblastic anemia syndrome: A rare genetic disorder characterized by megaloblastic anemia, hearing loss and diabetes. The condition is caused by a deficiency of a thiamine (vitamin B1) transporter protein which means that the body is unable to effectively utilize thiamine from the diet.
Urine substances: Inappropriate levels of substances found in urine