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.
Diagnosis:
There is increased lactic and malonic acid in the patient that lowers blood pH causing lactic and malonic aciduria.
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.
Causes:
The deficiency is inherited from both parents carrying defective genes but do not usually have the condition.
:
malonylcoadecarboxylasedeficiency
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