How is Hyperprolinemia diagnosed?
HPI is diagnosed biochemically based on a high plasma proline level without urinary excretion of P5C. In contrast, the presence of P5C in the urine is indicative of HPII. The normal level of proline is approximately 450 units, but people with HPI may have levels of 1,900 to 2,000 units.
What is 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.
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 does low proline mean?
Lower levels: – Low plasma levels of proline reflect low tissue supply of this amino acid. As proline is a major component of collagen, low plasma level can mean defective connective tissue synthesis. – Low proline levels can indicate a low protein diet and may prevent optimal connective tissue maintenance.
What causes elevated hydroxyproline?
The following conditions are associated with increased hydroxyproline levels: Paget disease. Rheumatoid arthritis. Hyperparathyroidism.
What causes low serine?
Serine deficiency could happen due to a defect in any of the three enzymes involved in its synthesis. The most frequent defect is 3-phosphoglycerate dehydrogenase (PHGDH) deficiency that is also the most serious.
What does high glycine mean?
Nonketotic hyperglycinemia is a disorder characterized by abnormally high levels of a molecule called glycine in the body (hyperglycinemia). The excess glycine builds up in tissues and organs, particularly the brain. Affected individuals have serious neurological problems.
How much hydroxyproline Can I take a day?
The daily turnover of collagen in humans is estimated to be 2–3 g/day,4 leading to the metabolism of 240–420 mg of hydroxyproline and the formation of 140–240 mg of glyoxylate.
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’s special about proline?
Proline is unique in that it is the only amino acid where the side chain is connected to the protein backbone twice, forming a five-membered nitrogen-containing ring. For this reason, Proline can often be found in very tight turns in protein structures (i.e. where the polypeptide chain must change direction).
What is the function of hydroxyproline?
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.
What symptoms are for serine deficiency?
Summary: Congenital microcephaly, seizures and severe psychomotor retardation are symptoms of serine deficiency and can be treated with supplementation of L-serine, sometimes combined with glycine.
Which is worse Hyperprolinemia Type 1 or Type 2?
Hyperprolinemia type II results in proline levels in the blood between 10 and 15 times higher than normal, and high levels of a related compound called pyrroline-5-carboxylate. This form of the disorder is more likely than type I to involve seizures or intellectual disability that vary in severity.
Are there any clinical manifestations of hyperprolinemia?
There are often no clinical manifestations of HPI. There are two types of hyperprolinemia: type I (HPI) and type II (HPII). Each type is caused by an autosomal recessive inborn error of the proline metabolic pathway. Proline is abundant in nature and readily found in a variety of foods.
What happens when proline levels are high in the blood?
Hyperprolinemia type II results in proline levels in the blood between 10 and 15 times higher than normal, and high levels of a related compound called pyrroline-5-carboxylate. This rare form of the disorder may appear benign at times, but often involves seizures, convulsions, and intellectual disability.
Where is Hyperprolinemia Type II located on the chromosome?
Hyperprolinemia Type II is an autosomal recessive disorder. The gene involved has been mapped to the short arm of chromosome 1 (1p36). Chromosomes, which are present in the nucleus of human cells, carry the genetic characteristics of each individual.