CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (CACT)

Disease	CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (CACT)
Synonym	CARNITINE-ACYLCARNITINE TRANSLOCASE; CACT
OMIM	212138 OMIM = Online Mendelian Inheritance of Men
Orphanet	159
Protein (UniProt)	Mitochondrial carnitine/acylcarnitine carrier protein
ExPASy	---
Gene locus	3p21.31 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 (carnitine-acylcarn
ICD	E71.3
Summary	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)
Symptoms	cardiac 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