Inborn errors of renal tubular transport
... are metabolic disorders which lead to impairment in the ability of solutes, such as ... This results in disruptions of renal reabsorption. Examples of these disorders include Iminoglycinuria, renal tubular acidosis ... to be transported across the brush border of the renal tubule. ...
Kidney stone disease
An inborn error of renal tubular transport". The New England Journal of Medicine. 278 (26): 1407-13. doi:10.1056/ ... However, no renal tubular damage or visible deposition of calcium oxalate crystals in kidneys was found in yearling wether ... People with certain rare inborn errors of metabolism have a propensity to accumulate crystal-forming substances in their urine ... The formation of calcium phosphate stones is associated with conditions such as hyperparathyroidism and renal tubular acidosis ...
Iminoglycinuria
An inborn error of renal tubular transport". New England Journal of Medicine. 278 (26): 1407-13. doi:10.1056/ ... New defect in renal tubular transport of glycine and imino acids". The American Journal of Medicine. 54 (2): 265-271. doi: ... Iminoglycinuria is an autosomal recessive disorder of renal tubular transport affecting reabsorption of the amino acid glycine ... In mammals, including humans, the transport of amino and imino acids from the lumen (interior) of the intestine or the renal ...
List of MeSH codes (C18)
... renal tubular transport, inborn errors MeSH C18.452.648.851.093 - acidosis, renal tubular MeSH C18.452.648.851.191 - ... inborn errors MeSH C18.452.648.798.368 - gout MeSH C18.452.648.798.368.410 - arthritis, gouty MeSH C18.452.648.798.594 - Lesch- ... inborn errors MeSH C18.452.648.066.102 - albinism MeSH C18.452.648.066.102.090 - albinism, ocular MeSH C18.452.648.066.102.100 ... renal tubular MeSH C18.452.076.176.310 - acidosis, respiratory MeSH C18.452.076.176.390 - diabetic ketoacidosis MeSH C18.452. ...
List of MeSH codes (C16)
... renal tubular transport, inborn errors MeSH C16.320.565.851.093 - acidosis, renal tubular MeSH C16.320.565.851.191 - ... inborn errors MeSH C16.320.565.798.368 - gout MeSH C16.320.565.798.368.410 - arthritis, gouty MeSH C16.320.565.798.594 - Lesch- ... inborn errors MeSH C16.320.565.066.102 - albinism MeSH C16.320.565.066.102.090 - albinism, ocular MeSH C16.320.565.066.102.100 ... amino acid transport disorders, inborn MeSH C16.320.565.088.400 - Hartnup disease MeSH C16.320.565.088.600 - oculocerebrorenal ...
List of MeSH codes (C12)
... renal osteodystrophy MeSH C12.777.419.815 - renal tubular transport, inborn errors MeSH C12.777.419.815.093 - acidosis, renal ... kidney tubular necrosis, acute MeSH C12.777.419.780.500.602 - kidney failure, chronic MeSH C12.777.419.780.625 - renal ... renal artery obstruction MeSH C12.777.419.780 - renal insufficiency MeSH C12.777.419.780.500 - kidney failure MeSH C12.777. ... tubular MeSH C12.777.419.815.191 - aminoaciduria, renal MeSH C12.777.419.815.191.250 - cystinuria MeSH C12.777.419.815.191.457 ...
Systemic primary carnitine deficiency
Systemic primary carnitine deficiency (SPCD) is an inborn error of fatty acid transport caused by a defect in the transporter ... The transporter, OCTN2, is located in the apical membrane of the renal tubular cells, where it plays a role in tubular ... Carnitine is needed to transport long chain fatty acids into the mitochondria, where they can be broken down to produce acetyl- ... When carnitine cannot be transported into tissues, fatty acid oxidation is impaired, leading to a variety of symptoms such as ...
Homeostasis
When the ECF pH falls (becoming more acidic) the renal tubular cells excrete hydrogen ions into the tubular fluid to leave the ... Almost any homeostatic component can malfunction either as a result of an inherited defect, an inborn error of metabolism, or ... Copper is absorbed, transported, distributed, stored, and excreted in the body according to complex homeostatic processes which ... It is very probable that the renal tubular cells of the distal convoluted tubules are themselves sensitive to the pH of the ...
Lysine
It may also occur due to a failure of renal tubular transport. Lysine production for animal feed is a major global industry, ... The initial error was caused by the chloroplatinate containing not water in the crystal (as was assumed), but ethanol … ) {{ ... Hoffmann GF, Kölker S (2016). Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. pp. 333-348. doi:10.1007/978-3-662-49771 ... Lysine has also been proposed to be involved in calcium intestinal absorption and renal retention, and thus, may play a role in ...
Glycogen storage disease type I
This will often present as Fanconi syndrome with multiple derangements of renal tubular reabsorption, including tubular ... Inborn errors of carbohydrate metabolism). ... The free glucose molecules can be transported out of the liver ... Renal tubular abnormalities related to hyperlactatemia are seen early in life, likely because prolonged lactic acidosis is more ... When lactate levels are elevated, blood-borne lactic acid competes for the same kidney tubular transport mechanism as urate, ...