PMID- 1060915
OWN - NLM
STAT- MEDLINE
DCOM- 19760402
LR  - 20151119
IS  - 0028-4793 (Print)
IS  - 0028-4793 (Linking)
VI  - 294
IP  - 9
DP  - 1976 Feb 26
TI  - Dihydrofolate reductase deficiency causing megaloblastic anemia in two families.
PG  - 466-70
AB  - To determine the cause of severe megaloblastosis detected at birth and at four
      weeks in two unrelated infants their bone marrow and liver cells were studied.
      Both patients had abnormal deoxyuridine suppression tests, corrected to normal by
      5-formyl tetrahydrofolic acid. Liver-cell homogenate from one patient had a
      previously undetectable level of dihydrofolate reductase restored to normal by
      high cation concentration in the assay. Activity of the liver-cell homogenate
      from the other patient, which was one quarter of the normal level, was restored
      to only half normal activity by high cation concentration. Dihydrofolic acid
      reductase deficiency prevents this conversion of folic acid to tetrahydrofolic
      acid; the enzyme activity appears to differ in each patient. A satisfactory
      clinical response in both patients followed parenteral therapy with 5-formyl
      tetrahydrofolic acid. One sibling in each family died of a similar illness.
      Autosomal recessive inheritance is probable.
FAU - Tauro, G P
AU  - Tauro GP
FAU - Danks, D M
AU  - Danks DM
FAU - Rowe, P B
AU  - Rowe PB
FAU - Van der Weyden, M B
AU  - Van der Weyden MB
FAU - Schwarz, M A
AU  - Schwarz MA
FAU - Collins, V L
AU  - Collins VL
FAU - Neal, B W
AU  - Neal BW
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - N Engl J Med
JT  - The New England journal of medicine
JID - 0255562
RN  - 9007-49-2 (DNA)
RN  - EC 1.5.1.3 (Tetrahydrofolate Dehydrogenase)
RN  - W78I7AY22C (Deoxyuridine)
SB  - IM
MH  - Anemia, Macrocytic/*genetics
MH  - Anemia, Megaloblastic/congenital/enzymology/*genetics
MH  - Bone Marrow/metabolism
MH  - Bone Marrow Cells
MH  - Child, Preschool
MH  - DNA/biosynthesis
MH  - Deoxyuridine
MH  - Female
MH  - Humans
MH  - Infant, Newborn
MH  - Liver/enzymology
MH  - Male
MH  - Tetrahydrofolate Dehydrogenase/analysis/*deficiency
EDAT- 1976/02/26 00:00
MHDA- 1976/02/26 00:01
CRDT- 1976/02/26 00:00
PHST- 1976/02/26 00:00 [pubmed]
PHST- 1976/02/26 00:01 [medline]
PHST- 1976/02/26 00:00 [entrez]
AID - 10.1056/NEJM197602262940903 [doi]
PST - ppublish
SO  - N Engl J Med. 1976 Feb 26;294(9):466-70. doi: 10.1056/NEJM197602262940903.