Proline oxidase deficiency, Hyperprolinemia, Proline dehydrogenase deficiency


Type of disease: Genetic, autosomal recessive | Rare conditions

Prolinemia(PRO) is a rare genetic condition. PRO results from a mutation or error in a person’s DNA or genes. Due to this mistake, people with PRO have problems breaking down amino acids which are the building blocks of protein. There are two forms of PRO, prolinemia type I (PRO I) and prolinemia type II (PRO II). Enzymes are special proteins that help break down food, which the body uses for energy and to make other proteins the body needs. PRO occurs when the body either does not make enough enzymes or produces non-working PRO enzymes called proline dehydrogenase and pyrroline-5-carboxylate dehydrogenase. In PRO I the proline dehydrogenase enzyme is not working correctly, and in PRO II pyrroline-5-carboxylate dehydrogenase is dysfunctionsal. Without the proper functioning of these enzymes, a person’s body cannot break down the amino acid, proline. This causes high levels of proline in the blood, which can be poisonous.

Each form of PRO varies in regards to disease severity and symptoms. Many individuals, especially those with PRO I, have no signs or symptoms of the condition. Signs of a more serious case of PRO may include seizures, developmental delay, and mild intelllectual disability. Although there is currently no effective treatment, some associated symptoms tend to disappear in adulthood. Many babies are screened for PRO at birth; however, the conditions included in newborn screening differ from state to state. For more information, visit Baby’s First Test.. Talk with your doctor and genetic counselor to determine which treatment option is best for you. Support groups are also a good source of information.

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