title: Myeloid dysplasia in familial 3-methylglutaconic aciduria.
abstract: 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.
authors.affiliation: Department of Pediatric Hemato-Oncology, Meyer Children's Hospital, Rambam Medical Center, Haifa, Israel.
authors.forename: Motti
authors.initials: M
authors.lastname: Haimi
authors.forename: Ronit
authors.initials: R
authors.lastname: Elhasid
authors.forename: Ruth
authors.initials: R
authors.lastname: Gershoni-Baruch
authors.forename: Shai
authors.initials: S
authors.lastname: Izraeli
authors.forename: Ronald J A
authors.initials: RJ
authors.lastname: Wanders
authors.forename: Hanna
authors.initials: H
authors.lastname: Mandel
mesh_terms: 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
chemical_list: D005977:Glutarates; C022034:3-methylglutaconic acid