Alpha-methylacetoacetic Aciduria

Description

Beta-ketothiolase (T2) deficiency is a rare organic aciduria (see this term) affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence.

Clinical Features

Top most frequent phenotypes and symptoms related to Alpha-methylacetoacetic Aciduria

  • Intellectual disability
  • Vomiting
  • Acidosis
  • Elevated hepatic transaminase
  • Hypoglycemia
  • Abnormality of the liver
  • Lethargy
  • Metabolic acidosis
  • Dehydration
  • Ketonuria
And another 3 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.


Mendelian

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Alpha-methylacetoacetic Aciduria Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ACAT1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ACAT1
Specificity
100 %
Genes
100 %
ACAT1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ACAT1
Specificity
100 %
Genes
100 %
ACAT1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ACAT1
Specificity
100 %
Genes
100 %
ACAT1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

ACAT1
Specificity
100 %
Genes
100 %
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 %
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 %
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 %
ACAT1 Gene Sequencing.

By GeneDx in United States.

ACAT1
Specificity
100 %
Genes
100 %
Beta-ketothiolase 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.

ACAT1
Specificity
100 %
Genes
100 %
Ketolysis Disorders.

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

ACAT1, OXCT1
Specificity
50 %
Genes
100 %
ACAT1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ACAT1
Specificity
100 %
Genes
100 %
Ketotic Hypoglycemia Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, GYS2, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKB
Specificity
10 %
Genes
100 %
Ketotic Hypoglycemia Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, GYS2, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKB
Specificity
10 %
Genes
100 %
Glycogen Storage Disease Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, FBP1, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKA1, PHKB, PFKM, GBE1, SLC2A2, PCK1
Specificity
6 %
Genes
100 %
Ketotic Hypoglycemia Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, GYS2, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKB
Specificity
10 %
Genes
100 %
Glycogen Storage Disease Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, FBP1, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKA1, PHKB, PFKM, GBE1, SLC2A2, PCK1
Specificity
6 %
Genes
100 %
Glycogen Storage Disease Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

AGL, ACAT1, FBP1, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKA1, PHKB, PFKM, GBE1, SLC2A2, PCK1
Specificity
6 %
Genes
100 %
Alpha-methylacetoacetic aciduria (sequence analysis of ACAT1 gene).

By CGC Genetics in Portugal.

ACAT1
Specificity
100 %
Genes
100 %
Metabolic Hypoglycemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AGL, ACAT1, ALDOB, FBP1, PC, GYS2, SLC37A4, SLC16A1, ACSF3, PHKA2, PCK2, HMGCL, PYGL, G6PC, PHKG2, PGM1, PHKB, MLYCD, OXCT1, GALT , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Organic Aciduria Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MCCC1, MCCC2, ACAT1, HLCS, BCKDHA, BCKDHB, MMACHC, DLD, ACSF3, ALDH6A1, IDH2, PCCB, PCCA, D2HGDH, MMADHC, MCEE, MMAB, MMAA, MUT, DBT , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
β-Ketothiolase Deficiency via ACAT1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ACAT1
Specificity
100 %
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 %
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 %
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 %
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 %
Methylacetoacetic aciduria.

By Centogene AG - the Rare Disease Company in Germany.

ACAT1
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 %
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 Organic Acidemias Panel.

By Invitae in United States.

MCCC1, MCCC2, ACAT1, FBP1, HLCS, BTD, AUH, BCKDHA, BCKDHB, MMACHC, HSD17B10, POLG, OPA3, ACSF3, TMEM70, HMGCL, IDH2, SUCLA2, ACAD8, DNAJC19 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Invitae Elevated C5-OH Panel.

By Invitae in United States.

MCCC1, MCCC2, ACAT1, HLCS, BTD, AUH, HSD17B10, OPA3, HMGCL, DNAJC19, TAZ, SERAC1
Specificity
9 %
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 Ketolysis Disorders Panel.

By Invitae in United States.

ACAT1, OXCT1
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 %
ORGANIC ACIDEMIAS.

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

MCCC1, MCCC2, ACAT1, BCKDHA, BCKDHB, MMACHC, HMGCL, PCCB, PCCA, MMAB, MMAA, MUT, DBT, IVD, GCDH
Specificity
7 %
Genes
100 %
Ketothiolase Deficiency (BKT): ACAT1 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ACAT1
Specificity
100 %
Genes
100 %
Ketothiolase Deficiency (BKT): ACAT1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ACAT1
Specificity
100 %
Genes
100 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
100 %
Deficiency of acetyl-CoA acetyltransferase.

By Integrated Genetics Westborough Integrated Genetics in United States.

ACAT1
Specificity
100 %
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 %
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 %
ACAT1.

By Fulgent Genetics Fulgent Genetics in United States.

ACAT1
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 %
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 %
Alpha-methylacetoacetic aciduria.

By Bioarray in Spain.

ACAT1
Specificity
100 %
Genes
100 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
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 %
ACETOACETYL-CoA THIOLASE DEFICIENCY (BETA-KETOTHIOLASE DEFICIENCY).

By Laboratorio de Genetica Clinica SL in Spain.

ACAT1
Specificity
100 %
Genes
100 %
Alpha-methylacetoaceticaciduria.

By Genera in Brazil.

ACAT1
Specificity
100 %
Genes
100 %
Beta-Ketothiolase Deficiency , Sequencing ACAT1 Gene.

By Reference Laboratory Genetics in Spain.

ACAT1
Specificity
100 %
Genes
100 %
Organic Acidemias , Panel Massive Sequencing (NGS) 15 Genes.

By Reference Laboratory Genetics in Spain.

MCCC1, MCCC2, ACAT1, BCKDHA, BCKDHB, MMACHC, HMGCL, PCCA, MMAB, MMAA, MUT, DBT, IVD, GCDH
Specificity
8 %
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 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %
Alpha-methylacetoacetic aciduria (3-ketothiolase deficiency): Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ACAT1
Specificity
100 %
Genes
100 %

Alternate names

Alpha-methylacetoacetic Aciduria Is also known as 2-methyl-3-hydroxybutyric acidemia, beta-ketothiolase deficiency, mitochondrial acetoacetyl-coa thiolase deficiency, mat deficiency, t2 deficiency, 3-oxothiolase deficiency, 3-ketothiolase deficiency, 3-ktd deficiency;3-ketothiolase deficiency; 3-oxothiolase deficiency; alpha methylacetoacetic aciduria; alpha-methyl-acetoacetyl-coa thiolase deficiency; mitochondrial acetoacetyl-coenzyme a thiolase deficiency; t2 deficiency.



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