Acetyl-Carnitine Deficiency
What is Acetyl-Carnitine Deficiency?
Acetyl-Carnitine Deficiency aka. Carnitine Acetyltransferase Deficiency refers to a condition where the body doesn’t get enough of the amino acid carnitine, either through a diet lacking in carnitine or the body’s inability to metabolize the amino acid, which is naturally occurring and obtained primarily through diet.
What are the symptoms of Acetyl-Carnitine Deficiency?
Common symptoms of Acetyl-Carnitine Deficiency include the following:- Low blood sugar
- Lack of muscle coordination when a voluntary movement is attempted
- Muscle fatigue and aches
- Confusion
- Liver dysfunction
- Low muscle tone
- Brain damage
What causes Acetyl-Carnitine Deficiency?
Mutation of the CRAT gene.How is Acetyl-Carnitine Deficiency diagnosed?
In babies prior to birth, Acetyl-Carnitine Deficiency is diagnosed by screening blood by using mass spectrometer. Prenatal diagnosis may be possible by examining amniotic fluid.
In adults, the definitive diagnosis is based on acylcarnitine levels in serum, urine, and tissues (muscle and liver for systemic deficiency; muscle only for myopathic deficiency).
