Inborn errors of renal tubular transport

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Inborn errors of renal tubular transport Classification and external resources
MeSH	D015499

Inborn errors of renal tubular transport are metabolic defects which lead to impairment in the ability of solute to migrate across the renal tubule.

Examples include renal tubular acidosis and Gitelman syndrome.

v • d • e Inborn errors of amino acid metabolism (E70-72, 270) K Lysine/straight chain Glutaric acidemia type 1 - type 2 - Hyperlysinemia - Pipecolic acidemia - Saccharopinuria Leucine Maple syrup urine disease - Isovaleric acidemia - 3-Methylcrotonyl-CoA carboxylase deficiency - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency G→pyruvate Glycine Sarcosinemia - D-Glyceric acidemia - Glutathione synthetase deficiency G→alpha-ketoglutarate Glutamate/glutamine SSADHD Proline Hyperprolinemia - Prolidase deficiency Histidine Carnosinemia - Histidinemia - Urocanic aciduria G→succinyl-CoA Methionine Hypermethioninemia - Homocystinuria - Cystathioninuria Valine Maple syrup urine disease - Hypervalinemia - Isobutyryl-CoA dehydrogenase deficiency Isoleucine Maple syrup urine disease - Beta-ketothiolase deficiency - 2-Methylbutyryl-CoA dehydrogenase deficiency General BC/OA Propionic acidemia - Methylmalonic acidemia G→fumarate Phenylalanine/tyrosine Phenylketonuria: Tetrahydrobiopterin deficiency - 6-Pyruvoyltetrahydropterin synthase deficiency Tyrosinemia: Type II tyrosinemia - Type III tyrosinemia/Hawkinsinuria - Alkaptonuria/Ochronosis - Type I tyrosinemia G→oxaloacetate Urea cycle/Hyperammonemia (arginine, aspartate) N-Acetylglutamate synthase deficiency - Carbamoyl phosphate synthetase I deficiency - Ornithine transcarbamylase deficiency/translocase deficiency - Citrullinemia - Argininosuccinic aciduria - Argininemia Transport Cystinuria - Hartnup disease - Oculocerebrorenal syndrome - Lysinuric protein intolerance - Inborn errors of renal tubular transport (Cystinosis, Fanconi syndrome) Tyrosine→Melanin Albinism: Ocular albinism - Oculocutaneous albinism (Hermansky-Pudlak syndrome) - Waardenburg syndrome Glycine→Creatine GAMT deficiency Other Trimethylaminuria - 2-Hydroxyglutaric aciduria - Fumarase deficiency see also Amino acid metabolism enzymes, Urea cycle enzymes, intermediates

v • d • e Urinary system - Pathology - Nephrology, including nephritis and nephropathy (N00-N39, 580-599) Diseases of the glomerulus Glomerulonephritis - Focal segmental glomerulosclerosis - Membranoproliferative glomerulonephritis - Membranous glomerulonephritis - Nephritic syndrome - Post-streptococcal glomerulonephritis - Nephrotic syndrome (Minimal change disease) - IgA nephropathy - Lupus nephritis - Diabetic nephropathy - Rapidly progressive glomerulonephritis Tubulointerstitial diseases of the kidney Interstitial nephritis - Pyelonephritis - Hydronephrosis - Pyonephrosis - Balkan nephropathy - Reflux nephropathy Renal failure Acute renal failure (Acute tubular necrosis) - Chronic renal failure Urolithiasis Kidney stone - Renal colic Diseases of the renal tubule and other disorders of kidney and ureter Renal osteodystrophy - Nephrogenic diabetes insipidus - Nephroptosis - Ureterocele - Abderhalden-Kaufmann-Lignac syndrome - Inborn errors of renal tubular transport (Renal tubular acidosis, Gitelman syndrome) Other diseases and disorders of urinary system urinary bladder: Cystitis (Interstitial cystitis, Trigonitis) - Neurogenic bladder - Vesicointestinal fistula urethra: Urethritis (Non-gonococcal urethritis) - Urethral syndrome - Urethral stricture Urinary tract infection Tumors of the kidney Renal cell carcinoma - Wilms' tumor (children) See also congenital conditions (Q60-Q64, 753)