Leukopenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Importantly, genetic deficiencies in several metabolite repair enzymes lead to 'inborn errors of metabolite repair', such as L-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric aciduria, 'ubiquitous glucose-6-phosphatase' (G6PC3) deficiency, the neutropenia present in Glycogen Storage Disease type Ib or defects in the enzymes that repair the hydrated forms of NADH or NADPH.
|
31691304 |
2020 |
Leukopenia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we show that the neutropenia in patients with G6PC3 or G6PT mutations is a metabolite-repair deficiency, caused by a failure to eliminate the nonclassical metabolite 1,5AG6P.
|
30626647 |
2019 |
Leukopenia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic Heterogeneity of Neutropenia and Gastrointestinal Illness Associated with G6PC3 Founder Mutation.
|
27571123 |
2016 |
Leukopenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Glucose-6-phosphatase-β (G6Pase-β or G6PC3) deficiency is characterized by neutropenia and dysfunction in both neutrophils and macrophages.
|
25492228 |
2015 |
Leukopenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Screening of all combined immune deficiencies with neutropenia may help to uncover the whole spectra of G6PC3 deficiency.
|
26479985 |
2015 |
Leukopenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The reported patient had binucleotide deletion mutation in G6PC3 and displayed the full spectrum of clinical manifestations associated with G6PC3 deficiency including neutropenia.
|
24796372 |
2014 |
Leukopenia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in G6PC3 have been identified as the cause of neutropenia in a minority of previously molecularly undefined cases.
|
23196894 |
2013 |
Leukopenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
G6PC3 deficiency can also result in isolated non-syndromic severe neutropenia.
|
23758768 |
2013 |
Leukopenia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Two cases of syndromic neutropenia with a report of novel mutation in G6PC3.
|
21891829 |
2011 |
Leukopenia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Conventional dideoxy sequencing confirmed pathogenic mutations in SLC45A2, associated with OCA type 4 (OCA-4), and G6PC3, associated with neutropenia.
|
21677667 |
2011 |
Leukopenia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A case of syndromic neutropenia and mutation in G6PC3.
|
21285905 |
2011 |
Leukopenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Inactivation of either G6PT or G6Pase-β increases neutrophil apoptosis, which underlies, at least in part, neutrophil loss (neutropenia) and dysfunction in GSD-Ib and G6Pase-β deficiency.
|
20975743 |
2010 |
Leukopenia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Enhanced neutrophil ER stress and apoptosis underlie neutropenia in G6PC3 deficiency, but the exact functional role of G6Pase-β in neutrophils remains unknown.
|
20498302 |
2010 |
Leukopenia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Thus, myelokathexis associated with abnormally high neutrophil CXCR4 expression may contribute to neutropenia in G6PC3 deficiency and responds well to granulocyte colony-stimulating factor.
|
20616219 |
2010 |