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Acatalasemia: Introduction

Acatalasemia: A rare inherited disorder involving a lack of erythrocyte catalase activity which affects lipid metabolism. The defect can manifest as one of two variants: Japanese variant (Takahara disease) or the Swiss variant which is asymptomatic. More detailed information about the symptoms, causes, and treatments of Acatalasemia is available below.

Symptoms of Acatalasemia

Treatments for Acatalasemia

  • Prompt and aggressive treatment should be used for streptococcal and pneumococcal infections and oral health should be monitored closely
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Home Diagnostic Testing

Home medical testing related to Acatalasemia:

Wrongly Diagnosed with Acatalasemia?

Acatalasemia: Complications

Review possible medical complications related to Acatalasemia:

Causes of Acatalasemia

Read more about causes of Acatalasemia.

Misdiagnosis and Acatalasemia

Unnecessary hysterectomies due to undiagnosed bleeding disorder in women: The bleeding disorder called Von Willebrand's disease is quite common in women, but often fails to be correctly diagnosed. Women with more »

Acatalasemia: Research Doctors & Specialists

Research related physicians and medical specialists:

Other doctor, physician and specialist research services:

Acatalasemia: Animations

Statistics for Acatalasemia

Acatalasemia: Broader Related Topics

User Interactive Forums

Read about other experiences, ask a question about Acatalasemia, or answer someone else's question, on our message boards:

Definitions of Acatalasemia:

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. - (Source - Diseases Database)

Acatalasemia is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Acatalasemia, or a subtype of Acatalasemia, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Acatalasemia as a "rare disease".
Source - Orphanet


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