Non-ketotic hyperglycinemia

This code represents a rare, inherited metabolic disorder characterized by abnormally high levels of glycine in the blood, urine, and cerebrospinal fluid, without the presence of ketones. It is caused by a defect in the glycine cleavage system, leading to severe neurological dysfunction, including seizures, hypotonia, and developmental delay, typically presenting in the neonatal period.

Assign this code for patients diagnosed with non-ketotic hyperglycinemia, confirmed through biochemical testing (elevated glycine levels in body fluids) and/or genetic testing identifying mutations in genes encoding components of the glycine cleavage system. Documentation should clearly state the diagnosis and supporting laboratory findings.

• Differentiate from other metabolic disorders causing hyperammonemia or seizures; this condition is specifically non-ketotic.
• Consider sequencing this code as the primary diagnosis when it is the main reason for the encounter, especially for diagnostic workup or management of the condition.
• Ensure documentation specifies "non-ketotic" to avoid confusion with other forms of hyperglycinemia or ketotic conditions.