Cystathioninuria

Jump to: navigation, search


Cystathioninuria
Cystathionine
ICD-10	E 72.1
ICD-9	270.4
OMIM	219500
DiseasesDB	29671

Articles
WikiDoc Resources for Cystathioninuria
Most recent articles on Cystathioninuria Most cited articles on Cystathioninuria Review articles on Cystathioninuria Articles on Cystathioninuria in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on Cystathioninuria Images of Cystathioninuria Photos of Cystathioninuria Podcasts & MP3s on Cystathioninuria Videos on Cystathioninuria
Evidence Based Medicine
Cochrane Collaboration on Cystathioninuria Bandolier on Cystathioninuria TRIP on Cystathioninuria
Clinical Trials
Ongoing Trials on Cystathioninuria at Clinical Trials.gov Trial results on Cystathioninuria Clinical Trials on Cystathioninuria at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Cystathioninuria NICE Guidance on Cystathioninuria NHS PRODIGY Guidance FDA on Cystathioninuria CDC on Cystathioninuria
Books
Books on Cystathioninuria
News
Cystathioninuria in the news Be alerted to news on Cystathioninuria News trends on Cystathioninuria
Commentary
Blogs on Cystathioninuria
Definitions
Definitions of Cystathioninuria
Patient Resources / Community
Patient resources on Cystathioninuria Discussion groups on Cystathioninuria Patient Handouts on Cystathioninuria Directions to Hospitals Treating Cystathioninuria Risk calculators and risk factors for Cystathioninuria
Healthcare Provider Resources
Symptoms of Cystathioninuria Causes & Risk Factors for Cystathioninuria Diagnostic studies for Cystathioninuria Treatment of Cystathioninuria
Continuing Medical Education (CME)
CME Programs on Cystathioninuria
International
Cystathioninuria en Espanol Cystathioninuria en Francais
Business
Cystathioninuria in the Marketplace Patents on Cystathioninuria
Experimental / Informatics
List of terms related to Cystathioninuria

Overview

Cystathioninuria is the condition of an excess of cystathionine in the urine.

It is associated with a deficiency of cystathionase.

v • d • e Metabolic pathology / Inborn error of metabolism (E70-90, 270-279)
Amino acid	Aromatic (Phenylketonuria, Alkaptonuria, Ochronosis, Tyrosinemia, Albinism, Histidinemia) - Branched chain (Maple syrup urine disease, Propionic acidemia, Methylmalonic acidemia, Isovaleric acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency) - Transport (Cystinuria, Cystinosis, Hartnup disease, Fanconi syndrome, Oculocerebrorenal syndrome) - Sulfur (Homocystinuria, Cystathioninuria) - Urea cycle disorder (N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency, Citrullinemia, Argininosuccinic aciduria, Hyperammonemia) - Glutaric acidemia type 1 - Sarcosinemia
Carbohydrate	Lactose intolerance - Glycogen storage disease (type I, type II, type III, type IV, type V, type VI, type VII) - fructose metabolism (Fructose intolerance, Fructose bisphosphatase deficiency, Essential fructosuria) - galactose metabolism (Galactosemia, Galactose-1-phosphate uridylyltransferase galactosemia, Galactokinase deficiency) - other intestinal carbohydrate absorption (Glucose-galactose malabsorption, Sucrose intolerance) - pyruvate metabolism and gluconeogenesis (PCD, PDHA) - Pentosuria - Renal glycosuria
Lipid storage	Sphingolipidoses/Gangliosidoses: GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis type IV - Gaucher's disease - Niemann-Pick disease - Farber disease - Fabry's disease - Metachromatic leukodystrophy - Krabbe disease Neuronal ceroid lipofuscinosis (Batten disease) - Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease (Wolman disease)
Other lipid	Lipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia Fatty acid: Adrenoleukodystrophy - Carnitine (Primary, I, II)
Mineral	Cu Wilson's disease/Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis enteropathica - PO₄³⁻ Hypophosphatemia/Hypophosphatasia - Mg²⁺ Hypermagnesemia/Hypomagnesemia - Ca²⁺ Hypercalcaemia/Hypocalcaemia/Disorders of calcium metabolism
Fluid, electrolyte and acid-base balance	Electrolyte disturbance - Na⁺ Hypernatremia/Hyponatremia - Acidosis (Metabolic, Respiratory, Lactic) - Alkalosis (Metabolic, Respiratory) - Mixed disorder of acid-base balance - H₂O Dehydration/Hypervolemia - K⁺ Hypokalemia/Hyperkalemia - Cl⁻ Hyperchloremia/Hypochloremia
Purine and pyrimidine	Hyperuricemia - Lesch-Nyhan syndrome - Xanthinuria
Porphyrin	Acute intermittent, Gunther's, Cutanea tarda, Erythropoietic, Hepatoerythropoietic, Hereditary copro-, Variegate
Bilirubin	Unconjugated (Gilbert's syndrome, Crigler-Najjar syndrome) - Conjugated (Dubin-Johnson syndrome, Rotor syndrome)
Glycosaminoglycan	Mucopolysaccharidosis - 1:Hurler/Hunter - 3:Sanfilippo - 4:Morquio - 6:Maroteaux-Lamy - 7:Sly
Glycoprotein	Mucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis
Other	Alpha 1-antitrypsin deficiency - Cystic fibrosis - Amyloidosis (Familial Mediterranean fever) - Acatalasia