HyperprolinemiaSymptoms, Doctors, Treatments, Advances & More
Hyperprolinemia Overview
Learn About Hyperprolinemia
Hyperprolinemia is an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two forms of hyperprolinemia, called type I and type II.
Hyperprolinemia is caused by variants (also known as mutations) in the ALDH4A1 and PRODH genes. These genes provide instructions for enzymes that break down proline.
It is difficult to determine the prevalence of hyperprolinemia type I because most people with the condition do not have any symptoms. Hyperprolinemia type II is thought to be a rare condition; its prevalence is also unknown.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have variants. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but do not show signs and symptoms of the condition. In about one-third of cases, individuals carrying one copy of an altered PRODH gene have moderately elevated levels of proline in their blood, but these levels do not cause any health problems. Individuals with one altered ALDH4A1 gene have normal levels of proline in their blood.
Andrea Ferreira practices practicing medicine in Porto Alegre, Brazil. Ferreira is rated as an Elite expert by MediFind in the treatment of Hyperprolinemia. They are also highly rated in 2 other conditions, according to our data. Their clinical expertise encompasses Delta-1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency, Hyperprolinemia, Malabsorption, and Malnutrition.
Brookside Family Practice & Pediatrics
Nahid Sultana is a primary care provider, practicing in Family Medicine in Pottstown, Pennsylvania. Dr. Sultana is rated as an Experienced provider by MediFind in the treatment of Hyperprolinemia. She is also highly rated in 18 other conditions, according to our data. Her clinical expertise encompasses High Cholesterol, Obesity, Hypertension, and Glucocorticoid-Remediable Aldosteronism. Dr. Sultana is board certified in American Board Of Family Medicine.
Samanta Loureiro practices practicing medicine in Porto Alegre, Brazil. Ms. Loureiro is rated as a Distinguished expert by MediFind in the treatment of Hyperprolinemia. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Hyperprolinemia, Glutaric Acidemia Type 1, Malabsorption, and Malnutrition.
Published Date: August 27, 2021
Published By: National Institutes of Health