FaCD Online Syndrome Fact Sheet
Last updated: 02 Sep 2008
Name: 3-Methylglutaconic Aciduria and Myelodysplasia
Synonym: 3-MGCA
Mode of Inheritance: AR?
Tumor featuresleukemia, acute myeloid (AML, incl. ANLL) myelodysplastic syndrome (MDS)
Non-tumor featuresdevelopmental delay/mental deficiency/mental retardation hypotonia seizures
Comment
Haimi et al[1] reported a consanguineous Druze kindred with 3-methylglutaconic aciduria in four boys, which, according to the authors, did not meet the clinic of the known four 3-MGCA subtypes. Two of the four affected boys developed thrombocytopenia and myelodysplastic syndrome. One of them subsequently developed acute myeloid leukemia with monosomy 7 in the marrow. No germline GATA1 (dyserythropoietic anemia with thrombocytopenia) or RUNX1 mutations were detected.
References
[1] Haimi M, Elhasid R, Gershoni-Baruch R, Izraeli S, Wanders RJ, Mandel H. Myeloid dysplasia in familial 3-methylglutaconic aciduria. Journal of pediatric hematology/oncology 2006; 28(2):69-72.
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