Definition:
PCC deficiency, also known as propionic acidermia, is a disease in which the body is unable to produce certain proteins and lipids. Because of this an abnormal accumulation of acids contaminate the blood and become toxic to some tissues.
Diagnosis:
Diagnosis can be done by monitoring the present symptoms, as well as by genetic testing to find the chromosomal defect.
Treatment:
The disease is very rare, and no specified treatments are found yet to cure the disease.
Symptoms and Signs:
Among the symptoms of the disease are poor feeding, weakness of the muscles, and lethargy. When not treated, the disease can lead the patient into coma.
Causes:
PCC deficiency is caused by a defect in the PCCA and PCCB genes.
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