Reference Material
Fatty Acid Synthesis
Requires transport of citrate from mitochondria to cytosol.
Predominantly occurs in liver, lactating mammary glands, and adipose tissue.
Mnemonic: "Sytrate" = synthesis.
Requires transport of citrate from mitochondria to cytosol.
Predominantly occurs in liver, lactating mammary glands, and adipose tissue.
Mnemonic: "Sytrate" = synthesis.
LCFA Degradation
Requires carnitine-dependent transport into the mitochondrial matrix.
Mnemonic: Carnitine = carnage of fatty acids.
Requires carnitine-dependent transport into the mitochondrial matrix.
Mnemonic: Carnitine = carnage of fatty acids.
Systemic 1° Carnitine Deficiency
No cellular uptake of carnitine → no transport of LCFAs into mitochondria → toxic accumulation of LCFAs in the cytosol.
Causes: Weakness, hypotonia, hypoketotic hypoglycemia, dilated cardiomyopathy.
No cellular uptake of carnitine → no transport of LCFAs into mitochondria → toxic accumulation of LCFAs in the cytosol.
Causes: Weakness, hypotonia, hypoketotic hypoglycemia, dilated cardiomyopathy.
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
↓ ability to break down fatty acids into acetyl-CoA → accumulation of fatty acyl carnitines and dicarboxylic acids in the blood with hypoketotic hypoglycemia.
Causes: Vomiting, lethargy, seizures, coma, liver dysfunction, hyperammonemia. Can lead to sudden death in infants or children.
Treat: Avoid fasting.
↓ ability to break down fatty acids into acetyl-CoA → accumulation of fatty acyl carnitines and dicarboxylic acids in the blood with hypoketotic hypoglycemia.
Causes: Vomiting, lethargy, seizures, coma, liver dysfunction, hyperammonemia. Can lead to sudden death in infants or children.
Treat: Avoid fasting.