Acylcarnitine Quantitative Neonatal Test

This test measures the acylcarnitine levels in the blood. 

• This test is done to detect and monitor fatty acid disorders such as Medium-chain acyl-coenzyme A dehydrogenase (MCAD), Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, and other metabolic abnormalities in neonates or newborn children.
• It helps in the early detection and timely management of these disorders, preventing serious complications in newborns.

This test is recommended for 

• Newborns with a family history of fatty acid disorders.
• Newborns with symptoms like poor feeding, lethargy, vomiting, seizures or any other unexplained problems.
• Newborns who have an abnormal newborn screening result.
• Asymptomatic newborns who are at high risk due to ethnicity or geographical location.

Elevated levels of acylcarnitine signify an inability to utilise fatty acids properly, suggesting the possibility of a fatty acid disorder. 

A small needle will be used to take a blood sample from your baby's heel or finger, which will be collected on a special filter paper. The process is straightforward and quick. The baby may cry for a few seconds, but there is usually no other discomfort or risk involved.

There are no specific preparations needed before performing this test. However, it is important to inform your healthcare provider of any medicines or nutritional supplements that your baby is taking. In some cases, the doctor may ask parents to withhold feeds for an hour or two before the test.

Additional tests that may be ordered include the following:

• Plasma amino acid test: Tests for amino acids in the blood
• Organic acid analysis: Identifies any abnormalities in organic acids present in urine or plasma
• Fatty acid oxidation tests: Looks for enzyme deficiencies that prevent fatty acid utilisation

Blood acylcarnitine profile, acylcarnitine analysis, metabolic screening

MCAD is short for Medium-Chain Acyl-CoA Dehydrogenase Deficiency. It is a disorder of fatty acid metabolism that affects how the body breaks down fatty acids to be used for energy production. MCAD deficiency can cause severe symptoms such as vomiting, seizures, lethargy, and even comas.

VLCADD, which stands for Very Long-Chain Acyl-CoA Dehydrogenase Deficiency, is an uncommon genetic disorder affecting the metabolism of fatty acids. It is inherited in an autosomal recessive manner. This condition arises when there is a deficiency or dysfunction of an enzyme required to break down specific very long-chain fatty acids. VLCADD falls under the category of metabolic disorders known as fatty acid oxidation diseases.