Ornithine transcarbamylase deficiency
(Redirected from Ornithine transcarbamylase deficiency, hyperammonemia due to)
Ornithine transcarbamylase deficiency | |
---|---|
Synonyms | N/A |
Pronounce | N/A |
Specialty | N/A |
Symptoms | Hyperammonemia, lethargy, vomiting, seizures |
Complications | N/A |
Onset | Neonatal or later in life |
Duration | N/A |
Types | N/A |
Causes | Genetic mutation in the OTC gene |
Risks | N/A |
Diagnosis | Genetic testing, ammonia levels |
Differential diagnosis | N/A |
Prevention | N/A |
Treatment | Low-protein diet, ammonia scavenging drugs, liver transplant |
Medication | N/A |
Prognosis | Variable, depending on severity and treatment |
Frequency | N/A |
Deaths | N/A |
Ornithine transcarbamylase deficiency (OTC deficiency) is a rare genetic disorder that affects the urea cycle, a series of biochemical reactions that occur in the liver to remove ammonia from the bloodstream. It is the most common urea cycle disorder and is inherited in an X-linked recessive pattern.
Signs and Symptoms[edit | edit source]
Individuals with OTC deficiency may present with symptoms of hyperammonemia, which can include lethargy, vomiting, seizures, and coma. In severe cases, especially in neonates, it can lead to brain damage or death if not treated promptly. Milder forms may present later in life with episodes of confusion, headache, and behavioral changes.
Genetics[edit | edit source]
OTC deficiency is caused by mutations in the OTC gene, which provides instructions for making the enzyme ornithine transcarbamylase. This enzyme is critical for the proper function of the urea cycle. Mutations in the OTC gene lead to a deficiency or absence of the enzyme, resulting in the accumulation of ammonia in the blood.
Diagnosis[edit | edit source]
Diagnosis of OTC deficiency is based on clinical symptoms, elevated ammonia levels in the blood, and confirmation through genetic testing. Newborn screening may detect elevated levels of certain metabolites that suggest a urea cycle disorder.
Treatment[edit | edit source]
Management of OTC deficiency involves reducing ammonia levels in the blood. This can be achieved through a low-protein diet, the use of ammonia scavenging drugs such as sodium phenylbutyrate or sodium benzoate, and in some cases, liver transplant. Early diagnosis and treatment are crucial to prevent neurological damage.
Prognosis[edit | edit source]
The prognosis for individuals with OTC deficiency varies depending on the severity of the enzyme deficiency and the timeliness of treatment. With appropriate management, individuals can lead relatively normal lives, although they may need to adhere to dietary restrictions and medication regimens.
See Also[edit | edit source]
References[edit | edit source]
External Links[edit | edit source]
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