Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.
And another 45 symptoms. If you need more information about this disease we can help you.
Carnitine-acylcarnitine Translocase Deficiency Is also known as cact deficiency.
Doctors, researchs, and experts related to Carnitine-acylcarnitine Translocase Deficiency extracted from public data.
THERABETAOX: Therapeutic potential of AMPK activators for correction of mitochondrial fatty acid beta-oxidation disorders.
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
SLC25A20
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
SLC25A20
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
SLC25A20
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
SLC25A20
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
SLC22A5, TAZ, LPIN1, SLC25A20, ACAD9, CPT1A, CPT1B, CPT2, ETFA, ETFB, ETFDH, HADHA, HADHB, ACADL, ACADM, ACADS, ACADVL
Specificity
6 %
Genes
100 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RYR1, SCN4A, SLC16A1, SUCLA2, TWNK, TK2, TSFM, LPIN1, SLC25A20, CASQ1, CAV3, RRM2B, FKRP, CPT2, SIL1, CTDP1, ANO5, TSEN54, DGUOK, DMD , (...)
View the complete list with 27 more genes
Specificity
3 %
Genes
100 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RYR1, SCN4A, SLC16A1, SUCLA2, TWNK, TK2, TSFM, LPIN1, SLC25A20, CASQ1, CAV3, RRM2B, FKRP, CPT2, SIL1, CTDP1, ANO5, TSEN54, DGUOK, DMD , (...)
View the complete list with 27 more genes
Specificity
3 %
Genes
100 % |
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