Acid phosphatase (AP) deficiency occurs when the body does not produce enough AP, causing phosphates to build up in the body. AP’s are molecules that decrease the amount of phosphates in the body, which is a necessary chemical process. Symptoms of AP deficiency include vomiting, low muscle tone, fatigue, spasm of neck and spinal muscles, and extreme bleeding.
AP deficiency can be noticed at birth and is inherited genetically, caused by a mutation in the ACP2 gene on chromosome 11. Genes are made up of DNA that produce proteins responsible for normal bodily function and health; furthermore, this mutation is inherited in an autosomal recessive pattern, meaning that you would need two copies of the mutated gene to have the disease.
Diagnosis of AP deficiency occurs either at birth after examining symptoms, or prenatally if the family has a history of children with AP deficiency. AP deficiency is a vague condition is not fully understood. A potential therapy may include medications to treat inflammation. These medications have been shown to increase AP levels slightly, though it is not known to “cure” AP deficiency; however, this is still being explored. AP deficiency typically results in infant death.
If a family member has been diagnosed with AP deficiency, speak with your doctor to learn more information. Support groups may also be available for further resources.
Description Last Updated: Aug 21, 2018