Acatalasia

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Acatalasia Classification and external resources
Basic structure of a peroxisome
ICD-10	E80.3
OMIM	115500
DiseasesDB	30598
MeSH	D020642

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

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Overview

Acatalasia (or Takahara's disease) is a peroxisomal disorder caused by a complete lack of catalase. The only apparent abnormality in these people is an increased incidence of periodontal infections. This is NOT a serious disease.

History

In 1948 , Dr.Shigeo Takahara (1908-1994), a Japanese otolaryngologist reported the new disease; to this day it is really only reported within families in Japan.

He had examined a patient with an oral ulcer. He had spread hydrogen peroxide on the diseased part, but oxygen was not generated due to the lack of catalase.

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 Peroxisomal disorders
Zellweger spectrum	Zellweger syndrome - Adrenoleukodystrophy (Adrenomyeloneuropathy) - Refsum's disease
Other	Acatalasia - Rhizomelic chondrodysplasia punctata - Mevalonic aciduria

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

ja:無カタラーゼ症

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Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .