TY - JOUR
T1 - Myeloid dysplasia in familial 3-methylglutaconic aciduria
AU - Haimi, Motti
AU - Elhasid, Ronit
AU - Gershoni-Baruch, Ruth
AU - Izraeli, Shai
AU - Wanders, Ronald J.A.
AU - Mandel, Hanna
PY - 2006/2
Y1 - 2006/2
N2 - A kindred is reported with four members affected with neurodegenerative disorder and 3-methylglutaconic aciduria. Two siblings developed thrombocytopenia heralding a myelodysplastic syndrome; in one patient it evolved into acute myeloid leukemia with monosomy 7 in the marrow. The hematologic complications have hitherto not been previously reported in other cases of 3-methylglutaconic aciduria and are thus thought to represent a new disease entity. This family adds additional evidence to the genetic heterogeneity of Mendelian disorders in which the primary mutation may have a mutator effect that could give origin to myelodysplastic syndrome and acute myeloid leukemia through acquired chromosomal changes.
AB - A kindred is reported with four members affected with neurodegenerative disorder and 3-methylglutaconic aciduria. Two siblings developed thrombocytopenia heralding a myelodysplastic syndrome; in one patient it evolved into acute myeloid leukemia with monosomy 7 in the marrow. The hematologic complications have hitherto not been previously reported in other cases of 3-methylglutaconic aciduria and are thus thought to represent a new disease entity. This family adds additional evidence to the genetic heterogeneity of Mendelian disorders in which the primary mutation may have a mutator effect that could give origin to myelodysplastic syndrome and acute myeloid leukemia through acquired chromosomal changes.
KW - 3-methylglutaconic aciduria
KW - Acute myeloid leukemia
KW - Monosomy 7
KW - Myelodysplastic syndrome
UR - http://www.scopus.com/inward/record.url?scp=33644614704&partnerID=8YFLogxK
U2 - 10.1097/01.mph.0000199585.98926.55
DO - 10.1097/01.mph.0000199585.98926.55
M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???
C2 - 16462576
AN - SCOPUS:33644614704
SN - 1077-4114
VL - 28
SP - 69
EP - 72
JO - Journal of Pediatric Hematology/Oncology
JF - Journal of Pediatric Hematology/Oncology
IS - 2
ER -