About
Carnitine-acylcarnitine translocase deficiency (CACT) is a condition in which the body is unable to break down certain fats. People affected by CACT are unable to break down some of the fats eaten into energy the body needs to function. This can cause too many unused fatty acids to build up in the body. There are two main forms of CACT, each differing by its age of onset: CACT in newborns and CACT in children. The signs of CACT are the same for these two forms, and include sleeping longer or more often, behavior changes, irritability, poor appetite, fever, diarrhea, vomiting, low blood sugar, weak muscle tone, seizures, and difficulty breathing. Many of these signs may occur when a baby eats foods that the body cannot break down. Detecting the condition early and beginning treatment can help prevent some of the severe outcomes of CACT.
Condition Type:
Frequency:
Carnitine-acylcarnitine translocase deficiency (CACT) deficiency is very rare; at least 30 cases have been reported.
More Information for Parents:
Also known as:
- CACT
- Carnitine acylcarnitine carrier deficiency
- CAC
- CACT deficiency
Core Conditions
- Propionic Acidemia (PROP)
- Methylmalonic Acidemia (Methylmalonyl-CoA Mutase Deficiency) (MUT)
- Methylmalonic Acidemia (Cobalamin Conditions)
- Isovaleric Acidemia (IVA)
- 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)
- 3-Hydroxy-3-Methylglutaric Aciduria (HMG)
- Holocarboxylase Synthetase Deficiency (MCD)
- Beta-Ketothiolase Deficiency (BKT)
- Glutaric Acidemia, Type I (GA-1)
- Mucopolysaccharidosis, Type II (MPS II)
- Biotinidase Deficiency (BIOT)
- Critical Congenital Heart Disease (CCHD)
- Cystic Fibrosis (CF)
- Classic Galactosemia (GALT)
- Hearing Loss or Varying Hearing Levels
- Severe Combined Immunodeficiency (SCID)
- X-Linked Adrenoleukodystrophy (X-ALD)
- Pompe
- Spinal Muscular Atrophy (SMA)
- Mucopolysaccharidosis, Type I (MPS I)
Secondary
- Citrullinemia, Type II (CIT II)
- Hypermethioninemia (MET)
- Benign Hyperphenylalaninemia (H-PHE)
- Biopterin Defect in Cofactor Biosynthesis (BIOPT-BS)
- Biopterin Defect in Cofactor Regeneration (BIOPT-REG)
- Ornithine Transcarbamylase Deficiency (OTC)
- Carbamoyl Phosphate Synthetase Deficiency (CPS)
- Tyrosinemia, Type II (TYR II)
- Tyrosinemia, Type III (TYR III)