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phosphoenolpyruvate carboxykinase deficiency

Medical Definition

A very rare, autosomal recessive inherited disorder caused by deficiency of the enzyme phosphoenolpyruvate carboxykinase, which is involved in gluconeogenesis. it presents with hypoglycemia, failure to thrive, metabolic acidosis, muscle weakness, and hepatomegaly.
Related Codes (1)
Code
Description
Billable
Details
E74.4Disorders of pyruvate metabolism and gluconeogenesis
Type 1 Excludes (2)

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