Inborn errors of renal tubular transport

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

Inborn errors of renal tubular transport are metabolic disorders which lead to impairment in the ability of solutes, such as salts or amino acids, to be transported across the brush border of the renal tubule. This results in disruptions of renal reabsorption.

Lysine/straight chain	Glutaric acidemia type 1 type 2 Hyperlysinemia Pipecolic acidemia Saccharopinuria

Leucine	3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency 3-Methylglutaconic aciduria 1 Isovaleric acidemia Maple syrup urine disease

Tryptophan	Hypertryptophanemia

Glycine	D-Glyceric acidemia Glutathione synthetase deficiency Sarcosinemia Glycine→Creatine: GAMT deficiency Glycine encephalopathy

Histidine	Carnosinemia Histidinemia Urocanic aciduria

Proline	Hyperprolinemia Prolidase deficiency

Glutamate/glutamine	SSADHD

Valine	Hypervalinemia Isobutyryl-CoA dehydrogenase deficiency Maple syrup urine disease

Isoleucine	2-Methylbutyryl-CoA dehydrogenase deficiency Beta-ketothiolase deficiency Maple syrup urine disease

Methionine	Cystathioninuria Homocystinuria Hypermethioninemia

General BC/OA	Methylmalonic acidemia Methylmalonyl-CoA mutase deficiency Propionic acidemia

Phenylketonuria	6-Pyruvoyltetrahydropterin synthase deficiency Tetrahydrobiopterin deficiency

Tyrosinemia	Alkaptonuria/Ochronosis Type I tyrosinemia Type II tyrosinemia Type III tyrosinemia/Hawkinsinuria

Tyrosine→Melanin	Albinism: Ocular albinism (1) Oculocutaneous albinism (Hermansky–Pudlak syndrome) Waardenburg syndrome

Tyrosine→Norepinephrine	Dopamine beta hydroxylase deficiency reverse: Brunner syndrome

Urea cycle/Hyperammonemia (arginine aspartate)	Argininemia Argininosuccinic aciduria Carbamoyl phosphate synthetase I deficiency Citrullinemia N-Acetylglutamate synthase deficiency Ornithine transcarbamylase deficiency/translocase deficiency

Other

Primarily
nephrotic

Non-proliferative	Minimal change Focal segmental Membranous

Proliferative	Mesangial proliferative Endocapillary proliferative Membranoproliferative/mesangiocapillary

By condition	Diabetic Amyloidosis

Primarily
nephritic,
RPG

Type I RPG/Type II hypersensitivity	Goodpasture's syndrome

Type II RPG/Type III hypersensitivity	Post-streptococcal Lupus DPGN IgA/Berger's

Type III RPG/Pauci-immune	Granulomatosis with polyangiitis Microscopic polyangiitis Eosinophilic granulomatosis with polyangiitis

General

General

General syndromes	Nephritis Nephrosis) Renal failure Acute renal failure Chronic kidney disease Uremic pericarditis Uremia Diabetes insipidus Nephrogenic Renal papilla Renal papillary necrosis Major calyx/pelvis Hydronephrosis Pyonephrosis Reflux nephropathy

Vascular	Renal artery stenosis Renal ischemia Hypertensive nephropathy Renovascular hypertension Renal cortical necrosis

Other	Analgesic nephropathy Renal osteodystrophy Nephroptosis Abderhalden–Kaufmann–Lignac syndrome

Ureter	Ureteritis Ureterocele Megaureter

Bladder	Cystitis Interstitial cystitis Hunner's ulcer Trigonitis Hemorrhagic cystitis Neurogenic bladder dysfunction Bladder sphincter dyssynergia Vesicointestinal fistula Vesicoureteral reflux

Urethra	Urethritis Non-gonococcal urethritis Urethral syndrome Urethral stricture/Meatal stenosis Urethral caruncle

Any/all	Obstructive uropathy Urinary tract infection Retroperitoneal fibrosis Urolithiasis Bladder stone Kidney stone Renal colic Malakoplakia Urinary incontinence Stress Urge Overflow

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