3-hydroxy-3-methylglutaryl-coa Synthase-2 Deficiency; Hmgcs2d

Description

3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism (see this term), reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.

Clinical Features

Top most frequent phenotypes and symptoms related to 3-hydroxy-3-methylglutaryl-coa Synthase-2 Deficiency; Hmgcs2d

  • Seizures
  • Hepatomegaly
  • Abnormality of metabolism/homeostasis
  • Coma
  • Diarrhea
  • Vomiting
  • Encephalopathy
  • Elevated hepatic transaminase
  • Hypoglycemia
  • Respiratory arrest
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.


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3-hydroxy-3-methylglutaryl-coa Synthase-2 Deficiency; Hmgcs2d 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 %
Fatty Acid Oxidation Deficiency.

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

ACAD9, ACADL, ACADM, ACADS, ACADVL, CPT2, HSD17B10, HADHA, HMGCL, HADHB, GLUD1, HMGCS2, TAZ, LPIN1, CPT1A, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

MCCC2, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRQ, UQCRB, ATPAF2, BCKDHA, BCKDHB, BCS1L, TWNK, CPT2, OPA1, TRMU, WFS1, DLD , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
Fatty acid metabolism/ketogenesis disorders.

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

ACAD9, ACADM, ACADVL, CPT2, HADHA, HMGCL, HADHB, HMGCS2, CPT1A, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20, CPT1B, HADH, SLC52A1
Specificity
6 %
Genes
100 %
Fatty acid metabolism/ketogenesis disorders.

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

ACAD9, ACADM, ACADVL, CPT2, HADHA, HMGCL, HADHB, HMGCS2, CPT1A, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20, CPT1B, HADH, SLC52A1
Specificity
6 %
Genes
100 %
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency.

By Unity of Clinical Genetics and Functional Genomics University of Zaragoza. Faculty of Medicine. in Spain.

HMGCS2
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 %
Disorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, PPARG, CPT2, HSD17B10, HADHA, HMGCL, ACADSB, HADHB, HMGCS2, TAZ, LPIN1, CPT1A, MLYCD, ETFB, ETFA , (...)

View the complete list with 7 more genes
Specificity
4 %
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 %
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 %
3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency.

By Centogene AG - the Rare Disease Company in Germany.

HMGCS2
Specificity
100 %
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 %
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 %
Fatty Acid Oxidation Disorder.

By Asper Biogene Asper Biogene LLC in Estonia.

ACAD9, ACADM, ACADS, ACADVL, PPARG, CPT2, HSD17B10, HADHA, HMGCL, HADHB, GLUD1, HMGCS2, TAZ, CPT1A, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20, HADH
Specificity
5 %
Genes
100 %
HMGCS2.

By Division Human Genetics Medical University Innsbruck in Austria.

HMGCS2
Specificity
100 %
Genes
100 %
Invitae Fatty Acid Oxidation Defects Panel.

By Invitae in United States.

ACADM, ACADS, ACADVL, CPT2, HADHA, HMGCL, ACADSB, HADHB, HMGCS2, CPT1A, MLYCD, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20, HADH, NADK2
Specificity
6 %
Genes
100 %
Invitae Ketogenesis Disorders Panel.

By Invitae in United States.

HMGCL, HMGCS2
Specificity
50 %
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 %
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 %
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 %
Fatty Acid Oxidation Deficiency NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ACAD9, ACADL, ACADM, ACADS, ACADVL, CPT2, HSD17B10, HADHA, HMGCL, HADHB, GLUD1, HMGCS2, TAZ, LPIN1, CPT1A, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
HMGCS2.

By Fulgent Genetics Fulgent Genetics in United States.

HMGCS2
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 %
Fatty Acid Oxidation Syndrome Panel.

By Blueprint Genetics in Finland.

ACAD9, ACADL, ACADM, ACADS, ACADVL, PPARG, CPT2, HSD17B10, HADHA, HMGCL, ACAD8, ACADSB, HADHB, GLUD1, HMGCS2, TAZ, ALDH5A1, LPIN1, CPT1A, ETFB , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel.

By Blueprint Genetics in Finland.

AGL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, GAA, HNF1A, SLC37A4, SLC16A1, GCK, ACSF3, PHKA2, HMGCL, PYGL, G6PC, PHKG2, PGM1, LDHA , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
HMG-COA SYNTHETASE DEFICIENCY.

By Laboratorio de Genetica Clinica SL in Spain.

HMGCS2
Specificity
100 %
Genes
100 %
HMG-CoA Sinthase Deficiency , Sequencing HMGCS2 Gene.

By Reference Laboratory Genetics in Spain.

HMGCS2
Specificity
100 %
Genes
100 %

Alternate names

3-hydroxy-3-methylglutaryl-coa Synthase-2 Deficiency; Hmgcs2d Is also known as mitochondrial hmg-coa synthase deficiency, hmgcs2 deficiency;hmg-coa synthase deficiency.



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