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Arginase deficiency

Arginase deficiency: Introduction

Arginase deficiency: A very rare urea cycle disorder caused by a deficiency of the enzyme (arginase) needed to convert ammonia to the urea which can then be removed in the urine. The condition leads to excess build-up of ammonia in the body which is toxic to the nervous system. More detailed information about the symptoms, causes, and treatments of Arginase deficiency is available below.

Symptoms of Arginase deficiency

Wrongly Diagnosed with Arginase deficiency?

Arginase deficiency: Complications

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Causes of Arginase deficiency

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Disease Topics Related To Arginase deficiency

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Misdiagnosis and Arginase deficiency

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as multiple sclerosis (see symptoms of multiple sclerosis). See more »

Evidence Based Medicine Research for Arginase deficiency

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Prognosis for Arginase deficiency

Prognosis for Arginase deficiency: severity of the condition is variable and symptoms may not occur in mild cases until later in life

Research about Arginase deficiency

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Statistics for Arginase deficiency

Arginase deficiency: Broader Related Topics

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Definitions of Arginase deficiency:

A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme type I ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51) - (Source - Diseases Database)

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

Related Arginase deficiency Info

Videos about Arginase deficiency


More information about Arginase deficiency

  1. Arginase deficiency: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Misdiagnosis
  6. Complications
  7. Prognosis

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