Myeloid dysplasia in familial 3-methylglutaconic aciduria

Motti Haimi, Ronit Elhasid, Ruth Gershoni-Baruch, Shai Izraeli, Ronald J.A. Wanders, Hanna Mandel

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)69-72
Number of pages4
JournalJournal of Pediatric Hematology/Oncology
Issue number2
StatePublished - Feb 2006
Externally publishedYes


  • 3-methylglutaconic aciduria
  • Acute myeloid leukemia
  • Monosomy 7
  • Myelodysplastic syndrome

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Pediatrics, Perinatology, and Child Health


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