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 complic...

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Bibliographic Details
Published inJournal of pediatric hematology/oncology Vol. 28; no. 2; p. 69
Main Authors Haimi, Motti, Elhasid, Ronit, Gershoni-Baruch, Ruth, Izraeli, Shai, Wanders, Ronald J A, Mandel, Hanna
Format Journal Article
LanguageEnglish
Published United States 01.02.2006
Subjects
Child, Preschool
Chromosomes, Human, Pair 7 - genetics
Consanguinity
Ethnic Groups - genetics
Female
Glutarates - urine
Humans
Infant
Intellectual Disability - genetics
Israel
Leukemia, Myeloid, Acute - genetics
Male
Metabolism, Inborn Errors - complications
Metabolism, Inborn Errors - urine
Monosomy
Myelodysplastic Syndromes - genetics
Pedigree
Thrombocytopenia - genetics
Israel
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Summary: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.
ISSN:1077-4114
DOI:10.1097/01.mph.0000199585.98926.55