Glucose-6-Phosphatase 3 Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive inherited disorder caused by mutations in the G6PC3 gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphatase 3. Patients may develop severe congenital neutropenia.

**Synonyms:** - G6PC3 Deficiency - Glucose-6-phosphatase Catalytic Subunit 3 Deficiency