Hypermethioninemia With S-adenosylhomocysteine Hydrolase Deficiency

Description

Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.

Clinical Features

Top most frequent phenotypes and symptoms related to Hypermethioninemia With S-adenosylhomocysteine Hydrolase Deficiency

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Motor delay
  • Abnormal facial shape
  • Cardiomyopathy
  • Abnormality of the dentition
  • Hepatic failure
  • Hepatitis
And another 4 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.


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Hypermethioninemia With S-adenosylhomocysteine Hydrolase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
AHCY Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories in United States.

AHCY
Specificity
100 %
Genes
100 %
AHCY Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

AHCY
Specificity
100 %
Genes
100 %
AHCY Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

AHCY
Specificity
100 %
Genes
100 %
Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague in Czech Republic.

AHCY
Specificity
100 %
Genes
100 %
Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency (sequence analysis of AHCY gene).

By CGC Genetics in Portugal.

AHCY
Specificity
100 %
Genes
100 %
Hypermethioninemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AHCY, GNMT, MAT1A
Specificity
34 %
Genes
100 %
S-Adenosylhomocysteine Hydrolase Deficiency via AHCY Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AHCY
Specificity
100 %
Genes
100 %
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MTHFR, MMACHC, AMN, MTR, MTRR, ACSF3, ALDH6A1, SUCLA2, PCCB, PCCA, MMADHC, LMBRD1, TCN2, CUBN, GIF, MCEE, MMAB, MMAA, MUT, MLYCD , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Hypermethioninemia with s-adenosylhomocysteine hydrolase (SAHH) deficiency (AHCY).

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

AHCY
Specificity
100 %
Genes
100 %
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase.

By Centogene AG - the Rare Disease Company in Germany.

AHCY
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
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 %
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 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 Elevated Methionine Panel.

By Invitae in United States.

CBS, AHCY, GNMT, MAT1A
Specificity
25 %
Genes
100 %
Cobalamin Homocysteine Methionine Deficiency NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

By Fulgent Genetics Fulgent Genetics in United States.

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

By Blueprint Genetics in Finland.

MTHFR, MCCC1, MCCC2, ACAT1, BCKDHA, BCKDHB, BCS1L, MMACHC, AMN, MTR, MTRR, DLD, ACSF3, HMGCL, IDH2, ACADSB, PCCB, PCCA, D2HGDH, MMADHC , (...)

View the complete list with 33 more genes
Specificity
2 %
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 %
Metabolic Myopathy and Rhabdomyolysis Panel.

By Blueprint Genetics in Finland.

ACAD9, ACADL, ACADM, AGL, ACADVL, ALDOA, TWNK, GAA, CPT2, OPA1, POLG, RRM2B, HADHA, OPA3, PGM1, LDHA, ENO3, SUCLA2, COQ8A, GYS1 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Baby Genes Targeted Panel.

By Baby Genes Inc. Baby Genes Inc. in United States.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, DLD, SLC25A13 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Hypermethioninemia: gene sequencing panel (RAPID testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

AHCY, GNMT, MAT1A
Specificity
34 %
Genes
100 %
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
100 %
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

AHCY
Specificity
100 %
Genes
100 %

Alternate names

Hypermethioninemia With S-adenosylhomocysteine Hydrolase Deficiency Is also known as ;hypermethioninemia due to s-adenosylhomocysteine hydrolase deficiency.



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