Myeloid dysplasia in familial 3-methylglutaconic aciduria.
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.
Haimi
Motti
M
Department of Pediatric Hemato-Oncology, Meyer Children's Hospital, Rambam Medical Center, Haifa, Israel.
Elhasid
Ronit
R
Gershoni-Baruch
Ruth
R
Izraeli
Shai
S
Wanders
Ronald J A
RJ
Mandel
Hanna
H
D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D003241:Consanguinity; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007557:Israel; D015470:Leukemia, Myeloid, Acute / Q000235:genetics; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000652:urine; D009006:Monosomy; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D010375:Pedigree; D013921:Thrombocytopenia / Q000235:genetics
D005977:Glutarates; C022034:3-methylglutaconic acid