A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis.
D000740:Anemia / Q000151:congenital; D005260:Female; D006529:Hepatomegaly; D006801:Humans; D007231:Infant, Newborn; D007964:Leukocytosis; D008661:Metabolism, Inborn Errors / Q000378:metabolism*; D008798:Mevalonic Acid / Q000652:urine*; D013163:Splenomegaly; D013921:Thrombocytopenia
D008798:Mevalonic Acid