Hyperprolinemia
Hyperprolinemia Causes
Most often, patients with hyperprolinemia Type I do not exhibit any symptoms. HOwever, their blood's proline levels are found to be 3 to 10 times more than the normal amount or level. There are certain instances though that some patients manifest certain symptoms such as mental retardation, seizures, and other psychiatric or neurological problems. Those suffering from Type II possess blood proline levels of up to 10 to 15 times more than what is normal. This type comes with symptoms that differ in severity. Type II patients are also more likely to experience mental retardation or seizeures than the Type I patients.
Hyperprolinemia Definition
Hyperprolinemia is a disorder resulting from excessive protein-building block (known as proline) in the patient's blood. This inherited condition has two types, namely Type I and Type II.
Hyperprolinemia Diagnosis
Diagnosis of hyperprolinemia involves screening of the patient's urine. However, elution chomatography remains to be the most efficient and reliable means of quantitative analysis.
Hyperprolinemia Symptoms and Signs
Hyperprolinemia is passed on through a hereditary pattern called autosomal recessive. Hence, children with both parents carrying the mutated gene are very likely to suffer from the condition too.
Hyperprolinemia Treatment
According to studies, restricting dietary proline early on has been found to result in a drastic drop in the proline's plasma levels to within the normal range. A diet that is low in proline has been credited as an effective treatment option. However, during the dietary treatment period, studies revealed that while growth was good, mental development was not satisfactory.