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Unit Code 82413:
Acylcarnitines, Quantitative, Plasma

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Useful For

Diagnosis of fatty acid beta-oxidation disorders and several

organic acidurias

 

In general, more than 20 inborn errors of metabolism can be identified

using this method.  For most of the disorders involving fatty acid beta-

oxidation, this is the most informative screening test. Quantitative

acylcarnitine analysis can also be used to evaluate the treatment

during follow-up of patients with these disorders.

Special Instructions and Forms

• Newborn Screening Follow-up for Isolated C4 Acylcarnitine Elevations (also applies to any plasma C4 acylcarnitine elevations) 
• Newborn Screening Follow-up for Elevations of C8, C6, and C10 Acylcarnitine (also applies to any plasma C8, C6, and C10 acylcarnitine elevations) 
• Newborn Screening Follow-up for Isolated C5 Acylcarnitines Elevations (also applies to any plasma C5 acylcarnitine elevation) 

Method Name

Electrospray Tandem Mass Spectrometry (MS/MS)

Reporting Name

Acylcarnitines, Quantitative, P

Ordering Mnemonic

ACCARN

Aliases

2-Methylbutyryl-CoA dehydrogenase deficiency

3-Hydroxy-3-methylglutaryl-CoA carboxylase deficiency

3-Methylcrotonyl carboxylase deficiency

B-ketothiolase deficiency

Biotinidase (multiple carboxylase) deficiency

Carnitine palmitoyl transferase deficiency type ll (CPT-ll)

CPT-II

Electron-transfer flavoprotein (ETF) deficiency

Electron-transfer flavoprotein (ETF) dehydrogenase deficiency

ETF

ETF dehydrogenase deficiency

GA2

GAII

Glutaric acidemia type II

Glutaryl-CoA dehydrogenase deficiency (glutaric acidemia type I)

Isobutyryl-CoA dehdrogenase deficiency

Isovaleric Acidemia

LCHAD

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

MADD

Malonic aciduria

MCAD

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

Methylmalonic Acidemia

MMA

Multiple acyl-CoA dehydrogenase deficiency (MADD)

Propionic Acidemia

SCAD

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency

Short/Medium-chain 3-hydroxyacyl-CoA dehydrogenase (S/MCHAD) deficiency

TFP

Trifunctional protein deficiency (TFP)

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency

VLCAD

Key