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CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (CACT)

CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (CACT)
CARNITINE-ACYLCARNITINE TRANSLOCASE; CACT
212138
OMIM = Online Mendelian Inheritance of Men
159
Mitochondrial carnitine/acylcarnitine carrier protein
---
3p21.31

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
E71.3
rare
autosomal recessive
mutation in the SLC25A20
failure to transport long chain acylcarnitines to the mitochondria
Laboratory findings    Acylcarnitine (C2) inc (urine)
    Adipic acid inc (urine)
    Ammonia inc (blood)
    Carnitine-acylcarnitine translocase dec (fibroblasts)
    D-Glucose dec (blood)
    Dicarboxylic acids normal/inc (urine)
    L-Carnitine dec (plasma)
    L-Carnitine dec (serum)
    L-Lactic acid inc (blood)
    Linoleoylcarnitine (C18:2) inc (plasma)
    Oleoylcarnitine (C18:1) inc (plasma)
    Palmitoylcarnitine (C16) inc (plasma)
    Sebacic acid inc (urine)
    Stearoylcarnitine (C18) inc (plasma)
    Suberic acid inc (urine)
    Tetradecanoylcarnitine (C14) inc (dried blood spot (DB)
Symptomscardiac arrhythmia, dysrhythmia
cardiomyopathy
   coma
   early death
   encephalopathy
   hypotonia
   lethargy, drowsiness, apathy
   liver involvement or dysfunction
   myopathy
    cardiac arrest
    cardiomyopathy, dilated
    cardiomyopathy, mixed type
    hepatomegaly (large liver)
    hyperammonemia
    hypoglycemia
    hypothermia
    lactic acidosis
    liver failure
    muscle weakness
    onset, infancy
    onset, neonatal
    Organic acids, urine
    respiratory distress
    seizures
    vomiting