5-oxoprolinase Deficiency

Description

5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.

Clinical Features

Top most frequent phenotypes and symptoms related to 5-oxoprolinase Deficiency

  • Seizures
  • Pain
  • Respiratory distress
  • Vomiting
  • Diarrhea
  • Depressivity
  • Abdominal pain
  • Acidosis
  • Hypoglycemia
  • Muscular dystrophy

And another 11 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

5-oxoprolinase Deficiency Is also known as oxoprolinuria due to oxoprolinase deficiency, oxoprolinuria due to 5-oxoprolinase deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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5-oxoprolinase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %
New Born testing (CentoICU).

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %
5-oxoprolinase deficiency.

By Centogene AG - the Rare Disease Company (Germany).

OPLAH
Specificity
100 %
Genes
100 %
Invitae Organic Acidemias Panel.

By Invitae (United States).

SLC25A1, BTD, SUCLA2, SUCLG1, TAZ, MCEE, MMAA, MMAB, L2HGDH, SERAC1, ETHE1, MMACHC, MMADHC, PPM1K, TMEM70, DBT, ACSF3, D2HGDH, DNAJC19, ETFA , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
OPLAH.

By Fulgent Genetics Fulgent Genetics (United States).

OPLAH
Specificity
100 %
Genes
100 %

We have -3 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Symptoms Checker

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