Article
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.
Orphanet journal of rare diseases - 13 Jun 2013
Banka Siddharth, Newman William G
Abstract excerpt
The G6PC3 gene encodes the ubiquitously expressed glucose-6-phosphatase enzyme (G-6-Pase β or G-6-Pase 3 or G6PC3). Bi-allelic G6PC3 mutations cause a multi-system autosomal recessive disorder of G6PC3 deficiency (also called severe congenital neutropenia type 4, MIM 612541). To date, at least 57 patients with G6PC3 deficiency have been described in the literature.G6PC3 deficiency is characterized by severe...
Topics
- Amino Acid Sequence
- Female
- Glucose-6-Phosphatase
- Glycogen Storage Disease Type I
- Heart Defects, Congenital
- Heart Septal Defects, Atrial
- Humans
- Hypertension, Pulmonary
- Leukopenia
- Male
- Molecular Sequence Data
- Mutation
- Neutropenia
- Sequence Analysis, DNA