Dihydropyrimidinase deficiency



Type of disease: Rare conditions

Dihydropyrimidinase deficiency also called DPYSD, is a genetic condition that can cause neurological (brain) or gastrointestinal (digestive) problems. In some cases, individuals show no symptoms, and in others there is a wide range of effects. The neurological symptoms are most often seizures, problems with intellectual ability, and weak muscle tone (hypotonia). Microcephaly (small head size) and autistic behaviors have also been associated with the condition. Symptoms affecting the digestive system include acid reflux (also called gastroesophageal reflux) and repeated incidents of vomiting. Problems with the villi (which are parts of the intestines that absorb nutrients) can also occur, ultimately leading to a lack of weight gain and low levels of nutrients in the body.

DPYSD is a genetic condition caused by changes in the DPYS gene. We inherit our genes in pairs, one from each parent typically. DPYSD is inherited in an autosomal recessive manner. Autosomal recessive means that an individual must have two copies of the changed gene or mutation that causes the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers of the condition, each child has a one-in-four chance (25%) of having the disease.

The treatment for DPYSD varies depending onthe specific symptoms present. Regular visits with a healthcare provider are recommended to monitor the progress of the disease.

If you or a family member has been diagnosed with this condition, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.

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