Carnitine-acylcarnitine Translocase Deficiency

Description

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Carnitine-acylcarnitine Translocase Deficiency

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Muscle weakness
  • Muscular hypotonia
  • Hepatomegaly
  • Respiratory insufficiency
  • Respiratory distress

And another 45 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Carnitine-acylcarnitine Translocase Deficiency Is also known as cact deficiency.

Researches and researchers

Doctors, researchs, and experts related to Carnitine-acylcarnitine Translocase Deficiency extracted from public data.

Carnitine-acylcarnitine Translocase Deficiency Experts map



Current Researchs and researchers

  • PARIS — Dr Jean BASTIN

    Investigator of research project

    • Institution/s:
      — INSERM UMR 1124, Centre Universitaire des Saints-Pères - Faculté de Médecine
    • Research area/topic::

      THERABETAOX: Therapeutic potential of AMPK activators for correction of mitochondrial fatty acid beta-oxidation disorders.



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Carnitine-acylcarnitine Translocase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

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 %
SLC25A20 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SLC25A20
Specificity
100 %
Genes
100 %
SLC25A20 (CACT) Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

SLC25A20
Specificity
100 %
Genes
100 %
SLC25A20 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SLC25A20
Specificity
100 %
Genes
100 %
SLC25A20 (CACT) Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

SLC25A20
Specificity
100 %
Genes
100 %
Fatty Acid Oxidation Panel (MitomeNGS).

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 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

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 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

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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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Search Engine

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