Glutaric Aciduria Iii; Ga3

Description

Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive.

Clinical Features

Phenotypes and symptoms related to Glutaric Aciduria Iii; Ga3

  • Failure to thrive
  • Hypertension
  • Diarrhea
  • Vomiting
  • Aciduria
  • Goiter
  • Abnormality of mitochondrial metabolism
  • Hyperthyroidism
  • Glutaric aciduria

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Glutaric Aciduria Iii; Ga3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
C7orf10 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SUGCT
Specificity
100 %
Genes
100 %
C7orf10 Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SUGCT
Specificity
100 %
Genes
100 %
C7orf10 Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SUGCT
Specificity
100 %
Genes
100 %
C7orf10 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SUGCT
Specificity
100 %
Genes
100 %
C7orf10 Sequence and Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SUGCT
Specificity
100 %
Genes
100 %
Glutaric Acidemia, Type 3 - C7ORF10 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

SUGCT
Specificity
100 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 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 %
Glutaric aciduria type 3.

By Centogene AG - the Rare Disease Company in Germany.

SUGCT
Specificity
100 %
Genes
100 %
C7orf10.

By Division Human Genetics Medical University Innsbruck in Austria.

SUGCT
Specificity
100 %
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 %
SUGCT.

By Fulgent Genetics Fulgent Genetics in United States.

SUGCT
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 %
Peroxisomal Disorders Panel.

By Blueprint Genetics in Finland.

AMACR, HSD17B4, AGPS, ABCD1, PHYH, ACOX1, AGXT, SUGCT, PEX2, PEX7, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %

Alternate names

Glutaric Aciduria Iii; Ga3 Is also known as ga iii, glutaryl-coa oxidase deficiency;glutaric aciduria type 3; glutaryl-coa oxidase deficiency.


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