Sphingolipidoses

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Sphingolipidoses Classification and external resources
ICD-10	E75.3
ICD-9	272.7
DiseasesDB	33438
MeSH	D013106

Sphingolipidoses are a class of disorders relating to Sphingolipid metabolism.

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

Overview

Examples include:

• Fabry's disease
• Gangliosidosis
  • GM1 gangliosidoses
  • GM2 gangliosidoses
    • Tay-Sachs disease
    • Sandhoff disease
• Gaucher's disease
• Krabbe disease
• Metachromatic leukodystrophy
• Niemann-Pick disease

See also

• Lipid storage disorder

External links

• MeSH Sphingolipidoses
• -382402491 at GPnotebook

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

v • d • e WikiDoc Research Resources for Sphingolipidoses
Articles on Sphingolipidoses	Most recent articles on Sphingolipidoses • Most cited articles on Sphingolipidoses • Review articles on Sphingolipidoses • Articles on Sphingolipidoses in N Eng J Med, Lancet, BMJ
Media (Slides, Video, Images, MP3) on Sphingolipidoses	Powerpoint slides on Sphingolipidoses • Images of Sphingolipidoses • Photos of Sphingolipidoses • Podcasts & MP3s on Sphingolipidoses • Videos on Sphingolipidoses
Evidence Based Medicine Regarding Sphingolipidoses	Cochrane Collaboration on Sphingolipidoses • Bandolier on Sphingolipidoses • TRIP on Sphingolipidoses
Cost Effectiveness of Sphingolipidoses	Cost Effectiveness of Sphingolipidoses
Clinical Trials Involving Sphingolipidoses	Ongoing Trials on Sphingolipidoses at Clinical Trials.gov • Trial results on Sphingolipidoses • Clinical Trials on Sphingolipidoses at Google
Guidelines / Policies / Government Resources (FDA/CDC) Regarding Sphingolipidoses	US National Guidelines Clearinghouse on Sphingolipidoses • NICE Guidance on Sphingolipidoses • NHS PRODIGY Guidance • FDA on Sphingolipidoses • CDC on Sphingolipidoses
Textbook Information on Sphingolipidoses	Books and Textbook Information on Sphingolipidoses
Pharmacology Resources on Sphingolipidoses	Dosing of Sphingolipidoses • Drug interactions with Sphingolipidoses • Side effects of Sphingolipidoses • Allergic reactions to Sphingolipidoses • Overdose information on Sphingolipidoses • Carcinogenicity information on Sphingolipidoses • Sphingolipidoses in pregnancy • Pharmacokinetics of Sphingolipidoses •
Genetics, Pharmacogenomics, and Proteinomics of Sphingolipidoses	Genetics of Sphingolipidoses • Pharmacogenomics of Sphingolipidoses • Proteomics of Sphingolipidoses
Newstories on Sphingolipidoses	Sphingolipidoses in the news • Be alerted to news on Sphingolipidoses • News trends on Sphingolipidoses
Commentary on Sphingolipidoses	Blogs on Sphingolipidoses
Patient Resources on Sphingolipidoses	Patient resources on Sphingolipidoses • Discussion groups on Sphingolipidoses • Patient Handouts on Sphingolipidoses • Directions to Hospitals Treating Sphingolipidoses • Risk calculators and risk factors for Sphingolipidoses
Healthcare Provider Resources on Sphingolipidoses	Symptoms of Sphingolipidoses • Causes & Risk Factors for Sphingolipidoses • Diagnostic studies for Sphingolipidoses • Treatment of Sphingolipidoses
Continuing Medical Education (CME) Programs on Sphingolipidoses	CME Programs on Sphingolipidoses
International Resources on Sphingolipidoses	Sphingolipidoses en Espanol • Sphingolipidoses en Francais
Business Resources on Sphingolipidoses	Sphingolipidoses in the Marketplace • Patents on Sphingolipidoses
Informatics Resources on Sphingolipidoses	List of terms related to Sphingolipidoses