Malonyl-CoA Decarboxylase Deficiency
Malonyl-CoA Decarboxylase Deficiency Causes
The deficiency is inherited from both parents carrying defective genes but do not usually have the condition.
Malonyl-CoA Decarboxylase Deficiency Definition
Malonyl-CoA decarboxylase deficiency also known as Malonic aciduria is a metabolic disorder disrupting the Malonyl-Coa decarboxylase from breaking down Malonyl-CoA enzyme into Acetyl-CoA and carbon dioxide.
Malonyl-CoA Decarboxylase Deficiency Diagnosis
There is increased lactic and malonic acid in the patient that lowers blood pH causing lactic and malonic aciduria.
Malonyl-CoA Decarboxylase Deficiency Symptoms and Signs
The deficiency usually appears during the patient's early childhood delaying the development. The patient also has weak muscle tone, seizures, diarrhea, vomiting, and low blood sugar. The patient may have a weak and enlarged heart muscle.