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Unit Code 88830:
C5-OH Acylcarnitine, Quantitative, Urine

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Useful For

Evaluation of patients with an abnormal newborn screen showing

elevations of C5-OH

Method Name

Flow Injection Analysis-Tandem Mass Spectrometry (MS/MS)
Stable Isotope Dilution

Reporting Name

C5-OH Acylcarnitine, QN, U

Ordering Mnemonic

C5OHU

Aliases

3-Hydroxy isovalerylcarnitine

3-Methylcrotonyl-CoA carboxylase deficiency

3-Methylcrotonylglycinuria

3-Methylglutaconic aciduria I

3-Methylglutaconic aciduria type 1

3-Methylglutaconic aciduria type I

3-Methylglutaconyl-CoA hydratase deficiency

3MCC

Acylcarnitines, urine

Beta-ketothiolase

Beta-ketothiolase deficiency

Biotinidase

Biotinidase deficiency

BKT

GA 1

GA I

GA1

GAI

Glutarylcarnitine

HCS

HCS deficiency

HMG-CoA (hydroxymethylglutaryl-CoA) lyase deficiency

Holocarboxylase deficiency

Holocarboxylase synthetase deficiency

Hydroxymethylglutaryl-CoA (HMG-CoA) Lyase Deficiency

MCC

MHBD

Multiple Carboxylase Deficiency

Key