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Hyperammonemia due to Ornithine Transcarbamylase Deficiency - Medical Condition Information

Hyperammonemia due to Ornithine Transcarbamylase Deficiency

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📋Overview

Hyperammonemia due to Ornithine Transcarbamylase (OTC) Deficiency is a genetic disorder causing impaired function of the OTC enzyme, which is critical in the urea cycle. This leads to accumulation of ammonia in the blood, a toxic substance normally removed by the liver. OTC deficiency is the most common urea cycle disorder and is inherited in an X-linked manner. The condition primarily affects the liver's ability to detoxify ammonia, resulting in neurological symptoms and metabolic crises if untreated.

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Medical codes (for reference)

UMLS CUI: C0268542
ICD-10-CM
E72.4
MeSH
D020163
SNOMED CT (US)
80908008

Codes are provided for reference and interoperability. They are not a diagnosis.

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