Amino acid transport defects

In the case of amino acid transport defects ( AST defects , syn .: primary disturbances in amino acid transport ), either reabsorption in the kidneys is impaired, or transport between the cells in the organism, especially in the intestine, is disturbed. Special forms of AST defects, e.g. B. between individual cell compartments occur.

Primarily renally localized AST defects

• Cystinuria , clinical symptoms: nephrolithiasis. (Prevalence of types I - III together: 1: 7,000)
  • Type I.
  • Type II
  • Type III

• Glycinuria , syn. Iminoglycinuria type II , clinic: nephrolithiasis (very rare)

• Lysinuria, syn. lysinuric protein tolerance LPI , syn. Type II dibasic amino aciduria . Localization also in the intestine, fibroblasts and hepatocytes. Clinic: convulsions, mental and physical retardation. (Very rare)

• Histidinuria, localized in the kidneys and intestines, clinic: convulsions. (extremely rare)

AST defects primarily caused by metabolism

• Cystinosis , the kidney is mainly damaged, but the reason is a lysosomal defect.

• Hartnup Syndrome , Clinical Findings . (Prevalence 1: 15,000)

• Iminoglycinuria type I, localized in neurons, intestines, kidneys, lungs, liver. Clinic: chorioretinal atrophy, mental retardation. (Prevalence 1: 16,000)

• Tryptophan malabsorption , syn. Blue Diper Syndrome , localized in the intestines and kidneys. Clinic: blue urine due to indole, mental retardation, hypercalcaemia. (very rare)

• Methionium malabsorption , syn. Oasthose syndrome localized in the intestines. Clinic: white hair, odor of hops in the urine, cramps, mental retardation. (very rare)

literature

• W. Siegenthaler, E. Blum: Clinical Pathophysiology. 9th edition. Thieme Verlag, Stuttgart 2006, ISBN 3-13-449609-7 , p. 122ff.

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !