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GTR Home > Conditions/Phenotypes > Hyperprolinemia type 2

Hyperprolinemia type 2

Synonyms
1-PYRROLINE-5-CARBOXYLATE DEHYDROGENASE DEFICIENCY; Deficiency of pyrroline-5-carboxylate reductase; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency; Hyperprolinemia, Type II
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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\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.\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. [from MedlinePlus Genetics]

Available tests

32 tests are in the database for this condition.

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Clinical tests (32 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALDH4, P5CD, P5CDh, ALDH4A1
    Summary: aldehyde dehydrogenase 4 family member A1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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