Rapid diagnosis and methionine administration: basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency

J Inherit Metab Dis. 1999 May;22(3):240-2. doi: 10.1023/a:1005509400481.

Authors

N G Abeling¹, A H van Gennip, H Blom, R A Wevers, P Vreken, H L van Tinteren, H D Bakker

Affiliation

¹ University of Amsterdam, Department of Clinical Chemistry, Amsterdam, The Netherlands.

PMID: 10384377
DOI: 10.1023/a:1005509400481

No abstract available

Publication types

Case Reports

MeSH terms

Female
Homocystinuria / diagnosis
Homocystinuria / drug therapy
Humans
Hyperhomocysteinemia / diagnosis
Hyperhomocysteinemia / drug therapy
Infant, Newborn
Methionine / administration & dosage
Methionine / pharmacology*
Methylenetetrahydrofolate Reductase (NADPH2)
Oxidoreductases Acting on CH-NH Group Donors / deficiency*
Time Factors
Treatment Outcome

Substances

Methionine
Oxidoreductases Acting on CH-NH Group Donors
Methylenetetrahydrofolate Reductase (NADPH2)