Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:1.5.7.1 (
methylenetetrahydrofolate reductase
)
2,116
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A 13-year-old Greek girl with
pyruvate kinase deficiency
and moya moya angiographic pattern is reported. She also had raised serum lipoprotein (a) concentration and was homozygous for the C677T mutation of the
methylenetetrahydrofolate reductase
gene. She presented with neonatal onset of anemia, hemolytic and aplastic crises, especially during infections, stroke, and also progressive motor and mental deterioration. A digital cranial angiography at 13 years revealed the typical angiographic findings of moya moya angiopathy. This is likely the first patient with
pyruvate kinase deficiency
and moya moya syndrome and also the combination of elevated serum lipoprotein (a) concentration and the C677T mutation of the
methylenetetrahydrofolate reductase
gene to be reported. In patients with
pyruvate kinase deficiency
and moya moya syndrome, a search for raised serum lipoprotein (a) concentrations and the C677T mutation of the
methylenetetrahydrofolate reductase
gene should be considered.
...
PMID:Moya moya syndrome in a child with pyruvate kinase deficiency and combined prothrombotic factors. 1762 33
