Cystathioninuria

Description

Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases.

Clinical Features

Phenotypes and symptoms related to Cystathioninuria

  • Diabetes mellitus
  • Aciduria
  • Glycosuria
  • Neuroblastoma
  • Hyperglycinemia
  • Cystinuria
  • Nonketotic hyperglycinemia
  • Galactosuria
  • Cystathioninuria
  • Hyperhistidinemia

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Cystathioninuria Is also known as cystathione gamma-lyase deficiency syndrome, gamma-cystathionase deficiency, cystathionase 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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Cystathioninuria Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cystathioninuria via CTH Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CTH
Specificity
100 %
Genes
100 %
Cystathioninuria.

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

CTH
Specificity
100 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL (Spain).

RMRP, RP2, RPE65, RPGR, RPS6KA3, RS1, SACS, SGCA, SGCB, SGSH, SLC16A2, SLC22A5, SLC25A13, SLC26A2, SLC3A1, SLC5A5, SLC6A8, KDM5C, SMN1, BTD , (...)

View the complete list with 278 more genes
Specificity
1 %
Genes
100 %
Cobalamin Homocysteine Methionine Deficiency NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

TCN2, CBS, CD320, MCEE, MMAA, MMAB, LMBRD1, MMACHC, CTH, MMADHC, ADK, AHCY, FOLH1, GNMT, MAT1A, ALDH6A1, MTHFR, MTR, MTRR, MMUT
Specificity
5 %
Genes
100 %
CTH.

By Fulgent Genetics Fulgent Genetics (United States).

CTH
Specificity
100 %
Genes
100 %
Organic Acidemia/Aciduria & Cobalamin Deficiency Panel.

By Blueprint Genetics (Finland).

BCS1L, SLC25A1, SUCLG1, TCN2, UMPS, AMN, CBS, SUGCT, CD320, MCEE, MMAA, MMAB, L2HGDH, SERAC1, LMBRD1, MMACHC, FLAD1, CTH, MMADHC, CUBN , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics (Finland).

BCS1L, CNNM2, RYR1, CNNM4, SCN4A, SEC23B, SGSH, SI, SLC40A1, SLC12A3, SLC16A1, SLC17A5, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC2A1, SLC2A2 , (...)

View the complete list with 411 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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