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:1.5.1.20 (
methylenetetrahydrofolate reductase
)
2,134
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We report a 13-year-old girl with
nephropathic cystinosis
on chronic peritoneal dialysis who presented with two episodes of stroke. Laboratory evaluation showed severe hyperhomocysteinemia (108 mumol/l). Further testing revealed that she was homozygous for the thermolabile variant of the
methylenetetrahydrofolate reductase
(
MTHFR
) gene. Treatment with folic acid and vitamin B12 lowered plasma homocysteine to less than 20 mumol/l. No further episodes of stroke occurred over a follow-up of 12 months. Homocysteine levels should be measured in patients with chronic renal failure, since simple and safe treatment with folic acid and vitamin B12 is effective in lowering the plasma homocysteine level in patients with the thermolabile
MTHFR
allele.
...
PMID:Cerebral vascular complication and hyperhomocysteinemia in a cystinotic uremic child. 1010 Feb 95
