Saccharopinuria

Description

Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.

Clinical Features

Top most frequent phenotypes and symptoms related to Saccharopinuria

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Delayed speech and language development
  • Hyperactivity
  • EEG abnormality
  • Spastic diplegia
  • Cystinuria
  • Hyperlysinuria

And another 2 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

Saccharopinuria Is also known as saccharopine dehydrogenase deficiency, hyperlysinemia, type ii, alpha-aminoadipic semialdehyde synthase deficiency, hyperlysinemia type ii.

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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Saccharopinuria Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Comprehensive mitochondrial disorders panel.

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

RNASEL, BCS1L, MRPL3, SARDH, SCO1, SCO2, SCP2, SDHA, SDHB, SDHC, SDHD, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC9A6, SOD2, SPG7, STAR , (...)

View the complete list with 156 more genes
Specificity
1 %
Genes
100 %
AllNeuro panel.

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

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %
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 %
Hyperlysinemia type 1.

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

AASS
Specificity
100 %
Genes
100 %
Saccharopinuria.

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

AASS
Specificity
100 %
Genes
100 %
AASS.

By Division Human Genetics Medical University Innsbruck (Austria).

AASS
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.

OMIM ORPHANET MESH Genetic Syndrome Finder

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