Summary. Hyperprolinemia type I (HPI) is an inherited metabolic disorder of proline metabolism, which is characterized by abnormally high levels of proline, hydroxyproline and glycine in the blood and the urine.
What causes Hyperprolinemia?
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. Hyperprolinemia type I is caused by variants in the PRODH gene, which provides instructions for producing an enzyme called proline dehydrogenase.
What is proline good for?
Functions of proline include helping form collagen, regenerating cartilage, forming connective tissue, repairing skin damage and wounds, healing the gut lining, and repairing joints.”
What condition may be indicated by high levels of proline in the blood?
Signs & Symptoms Hyperprolinemia Type II is characterized by an abnormally high level of the amino acid proline in the blood. Fevers associated with seizures are common and mild mental retardation may be present.
What does high hydroxyproline mean?
High levels of Proline: – Proline is universally required to protein synthesis and is metabolized to hydroxyproline, an important component in connective tissue. Therefore, high levels may reflect inadequate connective tissue synthesis.
What causes elevated hydroxyproline?
The following conditions are associated with increased hydroxyproline levels: Paget disease. Rheumatoid arthritis. Hyperparathyroidism.
What are the causes of some diseases caused by misfolded proline?
Protein misfolding is now recognized to be a major contributing factor in a number of protein folding diseases, including amyotropic laterial sclerosis, cystic fibrosis, Alzheimer’s disease, Parkinson’s disease, and a host of many different amyloidosis diseases.
Is proline a collagen?
Proline constitutes about 10% of total amino acids (AAs) in collagen, which accounts for one-third of proteins in mammals [24]. As the most abundant protein in the body, collagen is essential to maintain the proper structure and strength of connective tissue, such as bones, skin, cartilage, and blood vessels.
Does proline cause weight gain?
Supplementation with proline but not glutamic acid resulted in a linear increase (P < . 01) in weight gain. The failure to obtain a significant proline X glutamic acid interaction indicates that the response to proline was independent of the level of supplementary glutamic acid.
What causes Hartnup disease?
Hartnup disease is caused by alterations (mutations) in the SLC6A19 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent.
What does hydroxyproline do for the body?
Hydroxyproline is a major component of the protein collagen, comprising roughly 13.5% of mammalian collagen. Hydroxyproline and proline play key roles for collagen stability. They permit the sharp twisting of the collagen helix.
Is hydroxyproline good for skin?
Hydroxyproline has the potential to decrease fine lines and wrinkles when used topically and also helps to increase penetration into the skin of other anti-aging skin care ingredients. In addition, hydroxyproline binds water, making it an effective moisturizer and skin conditioner.
What is Hyperprolinemia Type I?
People with hyperprolinemia type I have proline levels in their blood between 3 and 10 times the normal level. Some individuals with type I exhibit seizures, intellectual disability, or other neurological problems.
What is Selkoe’s second type of hyperprolinemia?
Selkoe (1969) described a second type of hyperprolinemia with only mild mental retardation and without renal disease. Pavone et al. (1975) described 3 clinically normal sibs with type II hyperprolinemia. They lived in eastern Sicily and had first-cousin parents. All 3 also showed hyperglycinemia.
Is Hyperprolinemia autosomal recessive or dominant?
Hyperprolinemia has an autosomal recessive pattern of inheritance. Mutations in the ALDH4A1 and PRODH genes cause hyperprolinemia. Hyperprolinemia type I is caused by a mutation in the PRODH gene, which codes for the enzyme proline oxidase.
What is the ALDH4A1 gene alterations in hyperprolinaemia?
Individuals with one altered ALDH4A1 gene have normal levels of proline in their blood. Campbell HD, Webb GC, Young IG. A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia.
