A Rare Case of Methylmalonic Acidemia Associated with Hyperglycemia, Neutropenia and Mucormycosis

Methyl malonic acidemia is an autosomal recessive disease with presentations of mental retardation, recurrent vomiting, ketoacidotic attacks, dehydration, shock, hypoglycemia and hyperamonemia. It will lead to coma and death if unrecognized and untreated. Methyl malonic acidemia may have different skin manifestations. The involvement of blood cells leads to neutropenia, thrombocytopenia and pancytopenia. Most patients have hypoglycemia which in rare cases may be associated with hyperglycemia. The association of mucormycosis, neutropenia and hyperglycemia has been reported in some cases. The case reported in this article carried all three complications together.

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Keywords: Methyl malonic acidemia ، Mucormycosis ، Neutropenia ، Hyperglycemia