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Elevated circulating 1-pyrroline-5-carboxylic acid concentration

MedGen UID:
1053393
Concept ID:
CN377523
Finding
Synonym: Elevated circulating 1-pyrroline-5-carboxylic acid acid concentration
 
HPO: HP:6000694

Definition

The concentration of delta-1-pyrroline-5-carboxylate in the blood circulation is above the upper limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated circulating 1-pyrroline-5-carboxylic acid concentration

Conditions with this feature

Hyperprolinemia type 2
MedGen UID:
419175
Concept ID:
C2931835
Disease or Syndrome
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.\n\nHyperprolinemia can also occur with other conditions, such as malnutrition or liver disease. In particular, individuals with conditions that cause elevated levels of a chemical called lactic acid in the blood (lactic acidosis) may have hyperprolinemia as well, because lactic acid stops (inhibits) the breakdown of proline.\n\nHyperprolinemia 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.\n\nPeople with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Some individuals with hyperprolinemia type I exhibit seizures, intellectual disability, or other neurological or psychiatric problems.

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