FaCD Online Syndrome Fact Sheet

Last updated: 02 Sep 2008

Name: 3-Methylglutaconic Aciduria and Myelodysplasia

Synonym: 3-MGCA

Mode of Inheritance: AR?

Tumor features

leukemia, acute myeloid (AML, incl. ANLL)
myelodysplastic syndrome (MDS)

Non-tumor features

developmental 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.