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)
Hydrocephalus internus (HCI) of all four ventricles in association with early neurological abnormalities is described as the presenting symptom in two patients with
5,10-methylenetetrahydrofolate reductase
(
MTHFR
) deficiency.
Decreased activity
of
MTHFR
leads to reduction of 5-methyltetrahydrofolate, the main methyl donor for methionine synthesis necessary for synthesis of S-adenosyl-methionine (SAM). Demyelination in
MTHFR
deficiency has been attributed to low SAM levels in the brain. The biochemical hallmarks of the disorder are hyperhomocystinemia, homocystinuria and low levels of plasma methionine. Hydrocephalus internus requiring neurosurgical intervention has to our knowledge not been reported as a presenting feature of homocystinuria due to deficiency of
MTHFR
so far. The surprising finding of HCI of all four ventricles in
MTHFR
deficiency must be kept in mind when evaluating patients with hydrocephalus of unknown origin.
...
PMID:Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency. 1187 May 91
