PMID- 10577279
OWN - NLM
STAT- MEDLINE
DCOM- 19991101
LR  - 20190822
IS  - 0361-8609 (Print)
IS  - 0361-8609 (Linking)
VI  - 62
IP  - 2
DP  - 1999 Oct
TI  - A novel mutation of the erythroid-specific gamma-Aminolevulinate synthase gene in
      a patient with non-inherited pyridoxine-responsive sideroblastic anemia.
PG  - 112-4
AB  - A novel missense mutation, G663A, in exon 5 of the erythroid-specific
      delta-aminolevulinate synthase gene (ALAS2) was identified in a Japanese male
      with pyridoxine-responsive sideroblastic anemia. Activity of the mutant
      delta-aminolevulinate synthase protein expressed in vitro was 15.1% compared with
      the normal control, but was increased up to 34.5% by the addition of pyridoxal
      5'-phosphate, consistent with the clinical response of the patient to pyridoxine 
      treatment. The same mutation was also detected in genomic DNa from the oral
      mucosal membrane of the patiet; however, it was not detected in other family
      member. These findings suggest that this G663A mutation is responsible for
      sideroblastic anemia in the proband, and may be an index mutation in this
      pedigree.
FAU - Harigae, H
AU  - Harigae H
AD  - Department of Clinical Medicine, Tohoku University School of Medicine, Sandai,
      Japan.
FAU - Furuyama, K
AU  - Furuyama K
FAU - Kudo, K
AU  - Kudo K
FAU - Hayashi, N
AU  - Hayashi N
FAU - Yamamoto, M
AU  - Yamamoto M
FAU - Sassa, S
AU  - Sassa S
FAU - Sasaki, T
AU  - Sasaki T
LA  - eng
GR  - DK-32890/DK/NIDDK NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Hematol
JT  - American journal of hematology
JID - 7610369
RN  - EC 2.3.1.37 (5-Aminolevulinate Synthetase)
RN  - KV2JZ1BI6Z (Pyridoxine)
SB  - IM
MH  - 5-Aminolevulinate Synthetase/blood/*genetics
MH  - Anemia, Sideroblastic/*blood/drug therapy/enzymology/*genetics
MH  - Base Sequence
MH  - Bone Marrow Cells/pathology
MH  - Erythrocytes/*enzymology
MH  - Exons
MH  - Humans
MH  - Infant
MH  - Japan
MH  - Male
MH  - *Mutation, Missense
MH  - Polymerase Chain Reaction
MH  - Pyridoxine/*therapeutic use
MH  - Reference Values
EDAT- 1999/11/30 09:00
MHDA- 2000/06/20 09:00
CRDT- 1999/11/30 09:00
PHST- 1999/11/30 09:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1999/11/30 09:00 [entrez]
AID - 10.1002/(SICI)1096-8652(199910)62:2<112::AID-AJH9>3.0.CO;2-L [pii]
AID - 10.1002/(sici)1096-8652(199910)62:2<112::aid-ajh9>3.0.co;2-l [doi]
PST - ppublish
SO  - Am J Hematol. 1999 Oct;62(2):112-4. doi:
      10.1002/(sici)1096-8652(199910)62:2<112::aid-ajh9>3.0.co;2-l.