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ICD10 code of N-Acetylglutamate Synthetase Deficiency and ICD9 code

What is the ICD10 code for N-Acetylglutamate Synthetase Deficiency? And the ICD9 code for N-Acetylglutamate Synthetase Deficiency?

ICD9 and ICD10 codes of N-Acetylglutamate Synthetase Deficiency

ICD10 code: E72.2


ICD9 code: 270.6


N-Acetylglutamate Synthetase Deficiency is a rare genetic disorder that affects the urea cycle, a crucial metabolic pathway responsible for removing ammonia from the body. This condition is caused by mutations in the NAGS gene, which encodes the enzyme N-acetylglutamate synthetase. Without this enzyme, the body is unable to produce sufficient amounts of N-acetylglutamate, a molecule required to activate the first enzyme of the urea cycle.

The International Classification of Diseases, 10th Revision (ICD-10) provides a specific code for N-Acetylglutamate Synthetase Deficiency, which is E72.2. This code falls under the broader category of "Disorders of amino-acid metabolism," which encompasses various inborn errors of metabolism involving amino acids.

On the other hand, the ICD-9 code for N-Acetylglutamate Synthetase Deficiency is 270.6. In the older ICD-9 system, this condition was classified under "Other disorders of amino-acid metabolism."

It is important to note that these codes are used by healthcare professionals for diagnostic and billing purposes. They help classify and track various medical conditions, allowing for better management and research. Proper coding ensures accurate documentation, appropriate reimbursement, and facilitates communication between healthcare providers.

It is crucial for individuals with N-Acetylglutamate Synthetase Deficiency to receive early diagnosis and appropriate medical intervention. Management typically involves dietary modifications, such as protein restriction and supplementation with N-carbamylglutamate, a synthetic form of N-acetylglutamate that can bypass the enzyme deficiency. Regular monitoring and close medical supervision are essential to prevent complications associated with ammonia buildup.
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