hyperprolinemia

Hyperprolinemia is a rare metabolic disorder characterized by elevated levels of the amino acid proline in the blood. There are two main types, Type I and Type II, distinguished by the specific enzyme deficiency involved in proline metabolism. Type I is caused by a deficiency in the enzyme 3-hydroxyproline dehydrogenase, leading to an accumulation of proline and hydroxyproline. Type II is caused by a deficiency in proline oxidase, resulting primarily in elevated proline levels.

In many cases, hyperprolinemia is asymptomatic, meaning individuals with the condition do not experience any noticeable health problems. When symptoms do occur, they are generally mild and can include a variety of issues such as seizures, intellectual disability, and kidney problems. However, these symptoms are not consistently present and are more commonly associated with Type II hyperprolinemia, though the exact relationship between the biochemical abnormality and the clinical manifestations is not fully understood.

Diagnosis of hyperprolinemia is typically made through blood tests that measure amino acid levels. Genetic testing may also be employed to identify the specific enzyme deficiency. There is no specific cure for hyperprolinemia, and treatment, if necessary, focuses on managing any associated symptoms. In most instances, individuals with Type I hyperprolinemia do not require any medical intervention. For those with Type II who exhibit symptoms, therapies may aim to address neurological or renal complications. Due to its rarity and often asymptomatic nature, hyperprolinemia is frequently discovered incidentally during routine newborn screening or when investigating other medical conditions.