2021
DOI: 10.1186/s13023-021-02073-z
|View full text |Cite
|
Sign up to set email alerts
|

GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome

Abstract: Background Identification and characterisation of monogenic causes of complex neurological phenotypes are important for genetic counselling and prognostication. Bi-allelic pathogenic variants in the gene encoding GLRX5, a protein involved in the early steps of Fe-S cluster biogenesis, are rare and cause two distinct phenotypes: isolated sideroblastic anemia and a neurological phenotype with variant non-ketotic hyperglycinemia. In this study, we analysed the evolution of clinical and MRI finding… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2

Citation Types

0
2
0

Year Published

2024
2024
2024
2024

Publication Types

Select...
3

Relationship

0
3

Authors

Journals

citations
Cited by 3 publications
(2 citation statements)
references
References 26 publications
0
2
0
Order By: Relevance
“…This can lead to either a pyridoxine-unresponsive sideroblastic anemia phenotype, or for reasons that are yet to be fully understood, variant nonketotic hyperglycinemia. 50 Only 3 patients have been reported with the hematologic phenotype of GLRX5 deficiency. [51][52][53] All 3 patients had ringed sideroblasts in the bone marrow, and there was also evidence of hepatic iron overload, likely disease-related rather than transfusion-related.…”
Section: Glrx5 Deficiencymentioning
confidence: 99%
See 1 more Smart Citation
“…This can lead to either a pyridoxine-unresponsive sideroblastic anemia phenotype, or for reasons that are yet to be fully understood, variant nonketotic hyperglycinemia. 50 Only 3 patients have been reported with the hematologic phenotype of GLRX5 deficiency. [51][52][53] All 3 patients had ringed sideroblasts in the bone marrow, and there was also evidence of hepatic iron overload, likely disease-related rather than transfusion-related.…”
Section: Glrx5 Deficiencymentioning
confidence: 99%
“…Deficiency of GLRX5 leads to mitochondrial iron overload due to decreased activity of 3 key enzymes involved in heme synthesis: ferrochelatase, mitochondrial aconitase, and aminolevulinate synthase 2 [ALAS2]) 49 (ISC31). This can lead to either a pyridoxine-unresponsive sideroblastic anemia phenotype, or for reasons that are yet to be fully understood, variant nonketotic hyperglycinemia 50 …”
Section: Glrx5 Deficiencymentioning
confidence: 99%