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Argininemia (medical condition): A very rare urea cycle disorder caused by a deficiency...more »
Argininemia: rare autosomal recessive disorder of the urea cycle; 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.
These medical condition or symptom topics may be relevant to medical information for Argininemia:
Argininemia is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Argininemia, or a subtype of Argininemia,
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 if affects 1 person per 2,000.
They list Argininemia as a "rare disease".
Source - Orphanet
Argininemia: Argininemia is listed as a type of (or associated with) the following medical conditions in our database:
Some of the symptoms of Argininemia incude:
These medical disease topics may be related to Argininemia:
Source - NIH
Source - CRISP
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