Ornithine Transcarbamylase Deficiency (OTC)

Gene
OTC
Location
Xp21.1
Disease
Ornithine Transcarbamylase Deficiency (OTC)
Description
Ornithine Transcarbamylase deficiency is an inherited disorder that causes ammonia to accumulate in the blood.
Signs and Symptoms
Ornithine transcarbamylase deficiency (OTC) varies widely in its severity and age of onset . Most babies develop signs of OTC within the first few days of life. However, some individuals with OTC may not show any signs or symptoms until later in life. These later onset cases are usually less severe than those that develop in infancy.
Type
Amino Acid Disorders
Category
Core

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