Inborn Errors of Renal Tubular Transport

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.

Examples of these disorders include Iminoglycinuria, renal tubular acidosis and Gitelman syndrome.

Inborn error of amino acid metabolism (E70–E72, 270)
K→acetyl-CoA
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
  • 3-Methylglutaconic aciduria 1
Tryptophan
  • Hypertryptophanemia
G
G→pyruvate→citrate
Glycine
  • Sarcosinemia
  • D-Glyceric acidemia
  • Glutathione synthetase deficiency
  • Glycine→Creatine: GAMT deficiency
  • Glycine encephalopathy
G→glutamate→
α-ketoglutarate
Histidine
  • Carnosinemia
  • Histidinemia
  • Urocanic aciduria
Proline
  • Hyperprolinemia
  • Prolidase deficiency
Glutamate/glutamine
  • SSADHD
G→propionyl-CoA→
succinyl-CoA
Valine
  • Maple syrup urine disease
  • Hypervalinemia
  • Isobutyryl-CoA dehydrogenase deficiency
Isoleucine
  • Maple syrup urine disease
  • Beta-ketothiolase deficiency
  • 2-Methylbutyryl-CoA dehydrogenase deficiency
Methionine
  • Hypermethioninemia
  • Homocystinuria
  • Cystathioninuria
General BC/OA
  • Propionic acidemia
  • Methylmalonic acidemia
  • Methylmalonyl-CoA mutase deficiency
G→fumarate
Phenylalanine/tyrosine
Phenylketonuria
  • Tetrahydrobiopterin deficiency
  • 6-Pyruvoyltetrahydropterin synthase deficiency
Tyrosinemia
  • Type II tyrosinemia
  • Type III tyrosinemia/Hawkinsinuria
  • Alkaptonuria/Ochronosis
  • Type I tyrosinemia
Tyrosine→Melanin
  • Albinism: Ocular albinism (1)
  • Oculocutaneous albinism (Hermansky–Pudlak syndrome)
  • Waardenburg syndrome
Tyrosine→Norepinephrine
  • Dopamine beta hydroxylase deficiency
  • reverse: Brunner syndrome
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/
IE of RTT
  • Solute carrier family: Cystinuria
  • Hartnup disease
  • Lysinuric protein intolerance
  • Iminoglycinuria
  • Fanconi syndrome: Oculocerebrorenal syndrome
  • Cystinosis
Other
  • Trimethylaminuria
  • 2-Hydroxyglutaric aciduria
  • Fumarase deficiency
  • Ethylmalonic encephalopathy

M: MET

mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)

Urinary system · Pathology · Urologic disease / Uropathy (N00–N39, 580–599)
Abdominal
Nephropathy/
(nephritis+
nephrosis)
Glomerulopathy/
glomerulitis/
(glomerulonephritis+
glomerulonephrosis)
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 (DPN) · IgA/Berger's
Type III RPG/Pauci-immune Wegener's granulomatosis · Microscopic polyangiitis · Churg-Strauss Syndrome
Tubulopathy/
tubulitis
Proximal RTA (RTA 2) · Fanconi syndrome
Thick ascending Bartter syndrome
Distal convoluted Gitelman syndrome
Collecting duct Liddle's syndrome · RTA (RTA 1) · Diabetes insipidus (Nephrogenic)
Renal papilla Renal papillary necrosis
Major calyx/pelvis Hydronephrosis · Pyonephrosis · Reflux nephropathy
Any/all Acute tubular necrosis
Interstitium Interstitial nephritis (Pyelonephritis, Danubian endemic familial nephropathy)
Any/all
General syndromes Renal failure (Acute renal failure, Chronic renal failure) · Uremic pericarditis · Uremia
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
Pelvic
Bladder Cystitis (Interstitial cystitis, Hunner's ulcer, Trigonitis, Hemorrhagic cystitis) · Neurogenic bladder · 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) · Malacoplakia · Urinary incontinence (Stress, Urge, Overflow)

M: URI

anat/phys/devp/cell

noco/acba/cong/tumr, sysi/epon, urte

proc/itvp, drug (G4B), blte, urte

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