CD is caused by a change in the SLC25A13 gene. This gene gives the body instructions for making the protein citrin. Without a working SLC25A13 gene, the body cannot make citrin correctly, thus leading to the aforementioned symptoms.
Everyone has two copies of each gene in their body’s cells, one copy from each parent. CD follows a recessive inheritance pattern. This means that a patient with CD must have two faulty copies of SLC25A13 to cause features of CD.
An individual with one faulty copy of SLC25A13 is known as a carrier. Typically, carriers of an autosomal recessive condition do not have any signs or symptoms.
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