Disease Information for Acatalasia

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Clinical Manifestations
Signs & Symptoms
Gingival exudate
Gingival ulcer
Loose teeth/falling out
Oral lesion/ulcer
Sore/Painful mouth
Tonsil exudate
Ulcerative stomatitis
Asymptomatic patient
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Ethnic or Racial Factors
Danish population
Finnish population
Israel/Israeli population
Japanese population/ethnic stock
Korean population
Northern European population/extraction
Norwegian population
Scandinavian population
Swedish population
Swiss population
Population Group
Child
Population/Pediatrics population
Occupational Factors
Setting/Dental office
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Enzyme Assay plasma/tissue/fibroblast abnormal
Peroxide/blood gives methemoglobin/dark (Lab)
Abnormal Lab Findings - Increased
Methemoglobin (Lab)
Diagnostic Test Results
Pathology
PATH/Tissue biopsy/Enzyme assay abnormal
PATH/Tissue/Absent catalase
Associated Diseases & Rule outs
Associated Disease & Complications
Acatalasia
Gangrenous/ulcerative gingivitis/stomatitis
Gingivitis
Gingivostomatitis syndrome
Maxilla gangrene
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Erythrocyte disorder (ex)
CLASS/Gum/gingival involvement/disorder (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hepatic manifestations/involvement
Pathophysiology/Bone involvement/lesion
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Metabolic/storage disorder (category)
Synonyms
Synonym
Acatalasaemia, Acatalasemia, Acatalasemia (disorder), Acatalasia, Acatalasia (disorder), Catalase deficiency, Deficiency of catalase, Deficiency of catalase (disorder), Disease Takahara, Disease Takahara's, Takahara, Takahara Disease, Takaharas Disease, Takahara's Disease, Takahara's syndrome, Synonym/Acatalasemia, Synonym/Takahara's disease
Treatment
Other Treatments
TX/Genetic counselling
Definition

A rare autosomal recessive disorder resulting from the absence of CATALASE activity. Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present.

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External Links Related to Acatalasia
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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