Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To

Description

Carbamoyl phosphate synthetase I deficiency is an autosomal recessive inborn error of metabolism of the urea cycle which causes hyperammonemia. There are 2 main forms: a lethal neonatal type and a less severe, delayed-onset type (summary by Klaus et al., 2009).Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: ornithine transcarbamylase deficiency (OMIM ), carbamyl phosphate synthetase deficiency, argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Failure to thrive
  • Muscular hypotonia
  • Muscle weakness
  • Pain
  • Respiratory insufficiency
  • Coma
And another 21 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To have a estimated prevalence of 0.31 per 100k in Europe.


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Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To Recommended genes panels

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

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
CPS1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CPS1
Specificity
100 %
Genes
100 %
CPS1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CPS1
Specificity
100 %
Genes
100 %
CPS1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

CPS1
Specificity
100 %
Genes
100 %
CPS1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

CPS1
Specificity
100 %
Genes
100 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, AGL, ACADVL, ACAT1, YARS2, PC, GYS2, UQCRQ, ARG1, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
Urea Cycle Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

ARG1, CPS1, OTC, NAGS, ASS1, ASL
Specificity
17 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
Urea Cycle Disease Panel.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

ARG1, CPS1, SLC25A13, GLUD1, OTC, SLC25A15, NAGS, ASS1, ASL, SLC7A7, CA5A
Specificity
10 %
Genes
100 %
Carbamoylphosphate Synthetase I Deficiency.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

CPS1
Specificity
100 %
Genes
100 %
Hyperammonaemia/Urea cycle disorders.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

ARG1, CPS1, SLC25A13, GLUD1, PCCB, PCCA, OTC, OAT, MUT, SLC25A15, NAGS, ASS1, ASL, SLC7A7
Specificity
8 %
Genes
100 %
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

MTHFR, ARG1, HLCS, BCKDHA, BCKDHB, ADSL, MMACHC, MTR, MTRR, CPS1, HPRT1, DLD, COQ9, PDSS2, PDSS1, GAMT, GATM, SPR, COQ8A, COQ2 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Carbamoylphosphate synthetase I deficiency (sequence analysis of CPS1 gene).

By CGC Genetics in Portugal.

CPS1
Specificity
100 %
Genes
100 %
Hyperammonemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MCCC1, MCCC2, ACADM, ACADS, ACADVL, ARG1, HLCS, MMACHC, CPS1, CPT2, SLC25A13, HADHA, TMEM70, HADHB, GLUD1, PCCB, PCCA, HMGCS2, OTC, MMADHC , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Carbamoylphosphate Synthetase I Deficiency via the CPS1 Gene.

By PreventionGenetics PreventionGenetics in United States.

CPS1
Specificity
100 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PC, TYROBP, ATP7A, ATP7B, TWNK, ADSL, HSD17B4, CPS1, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, SLC25A4, RRM2B, FH, COQ9, DNM1L, DGUOK , (...)

View the complete list with 134 more genes
Specificity
1 %
Genes
100 %
Urea Cycle Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ARG1, CPS1, SLC25A13, OTC, OAT, SLC25A15, NAGS, ASS1, ASL
Specificity
12 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Ataxia.

By MGZ Medical Genetics Center in Germany.

ARG1, BCKDHA, BCKDHB, C12orf65, CPS1, POLG, TTC19, COQ8A, DARS2, OTC, PDHA1, ABCB7, DBT, IVD, SLC25A15, ASS1, APTX, ASL, TACO1, SLC2A1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Episodic Ataxia and Phenocopies.

By MGZ Medical Genetics Center in Germany.

ACADVL, ARG1, BCKDHA, BCKDHB, CPS1, CPT2, DARS2, PNPLA2, OTC, PDHA1, ABHD5, DBT, IVD, SLC25A15, ETFB, ETFA, ETFDH, ASS1, SLC22A5, ASL , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Carbamoyl-phosphate synthase 1, mitochondrial (CPS1).

By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.

CPS1
Specificity
100 %
Genes
100 %
Comprehensive mitochondrial disorders panel.

By Centogene AG - the Rare Disease Company in Germany.

MCCC1, MCCC2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRB, HLCS, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, STAR, MTRR , (...)

View the complete list with 160 more genes
Specificity
1 %
Genes
100 %
Urea cycle disorder panel.

By Centogene AG - the Rare Disease Company in Germany.

ARG1, CPS1, OTC, NAGS, ASS1
Specificity
20 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Carbamoylphosphate synthetase I deficiency.

By Centogene AG - the Rare Disease Company in Germany.

CPS1
Specificity
100 %
Genes
100 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Urea Cycle Disorder.

By Asper Biogene Asper Biogene LLC in Estonia.

ARG1, CPS1, SLC25A13, OTC, OAT, SLC25A15, NAGS, ASS1, ASL, SLC7A7
Specificity
10 %
Genes
100 %
CPS1.

By Division Human Genetics Medical University Innsbruck in Austria.

CPS1
Specificity
100 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
100 %
Invitae Urea Cycle Disorders Panel.

By Invitae in United States.

ARG1, CPS1, SLC25A13, ALDH18A1, OTC, OAT, SLC25A15, NAGS, ASS1, ASL
Specificity
10 %
Genes
100 %
Invitae Metabolic Disorders Newborn Screening Confirmation Panel.

By Invitae in United States.

MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, PC, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, MMACHC, MTR, MTRR, CPS1, CPT2, PRODH , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Invitae Low Citrulline Panel.

By Invitae in United States.

CPS1, OTC, NAGS
Specificity
34 %
Genes
100 %
Invitae Treatable Neurometabolic Disorders Panel.

By Invitae in United States.

MTHFR, MCCC1, MCCC2, ACAT1, ARG1, HLCS, ATP7A, BTD, ATP7B, AUH, BCKDHA, BCKDHB, MMACHC, AMN, MTR, MTRR, CPS1, HSD17B10, DLD, SLC25A13 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
UREA CYCLE DISORDERS.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ARG1, CPS1, SLC25A13, OTC, SLC25A15, NAGS, ASS1, ASL
Specificity
13 %
Genes
100 %
Inherited Metabolic Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, PC, GYS2, HLCS, ATPAF2, AUH, BCKDHA, BCKDHB, GAA, MMACHC, MTR, SLC37A4, MTRR , (...)

View the complete list with 81 more genes
Specificity
1 %
Genes
100 %
Urea Cycle Defect (UCD): Sequencing NGS Multi-Gene Panel (8 genes).

By DLE - Diagnosticos Laboratoriais Especializados in Brazil.

ARG1, CPS1, SLC25A13, OTC, SLC25A15, NAGS, ASS1, ASL
Specificity
13 %
Genes
100 %
Inheritest NGS, Comprehensive.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ACADM, AGL, ACADVL, ACAT1, ALDOB, ALPL, HLCS, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPS1, CPT2, GNPTAB , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
100 %
Carbamoyl phosphate synthetase 1 deficiency.

By Integrated Genetics Westborough Integrated Genetics in United States.

CPS1
Specificity
100 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
CPS1.

By Fulgent Genetics Fulgent Genetics in United States.

CPS1
Specificity
100 %
Genes
100 %
Hyperammonemia and Urea Cycle Disorder Panel.

By Blueprint Genetics in Finland.

MCCC1, MCCC2, ACADM, ACADS, ACADVL, PC, ARG1, HLCS, BCKDHA, BCKDHB, MMACHC, CPS1, CPT2, DLD, SLC25A13, HADHA, TMEM70, HMGCL, SUCLA2, HADHB , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
100 %
CARBAMOYL-PHOSPHATE SYNTHASE DEFICIENCY.

By Laboratorio de Genetica Clinica SL in Spain.

CPS1
Specificity
100 %
Genes
100 %
UREA CYCLE DISORDERS.

By Laboratorio de Genetica Clinica SL in Spain.

ARG1, CPS1, OTC, NAGS, ASS1, ASL
Specificity
17 %
Genes
100 %
UREA CYCLE DISORDERS: NGS PANE.

By Laboratorio de Genetica Clinica SL in Spain.

ARG1, CPS1, SLC25A13, OTC, SLC25A15, NAGS, ASS1, ASL
Specificity
13 %
Genes
100 %
Urea Cycle Disorders , Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

ARG1, CPS1, SLC25A13, OTC, SLC25A15, NAGS, ASS1, ASL
Specificity
13 %
Genes
100 %
Carbamoylphosphate Synthetase I Deficiency , Massive Sequencing (NGS) CPS1 Gene.

By Reference Laboratory Genetics in Spain.

CPS1
Specificity
100 %
Genes
100 %

Alternate names

Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To Is also known as carbamoyl phosphate synthetase i deficiency, cps i deficiency;cps1 deficiency; cps1d; carbamoyl-phosphate synthetase i deficiency; carbamoyl-phosphate synthetase deficiency.



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