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Test ID: C5OHU    
C5-OH Acylcarnitine, Quantitative, Urine

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Useful For Suggests clinical disorders or settings where the test may be helpful

Evaluation of patients with an abnormal newborn screen showing elevations of 3-hydroxyisovaleryl-/2-methyl-3-hydroxybutyryl-carnitine (C5-OH)

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Evaluation of patients with an abnormal newborn screen showing elevations of C5-OH.

Highlights

Elevated 3-hydroxyisovaleryl-/2-methyl-3-hydroxy acylcarnitine (C5-OH) in plasma or newborn screening blood spots is due to one of several biochemical genetic diagnoses: 3-methylcrotonylglycinuria, 3-hydroxy 3-methylglutaryl-(HMG)-CoA lyase deficiency, beta-ketothiolase deficiency, 2-methyl 3-hydroxybutyryl-CoA dehydrogenase deficiency, 3-methylglutaconic aciduria, biotinidase deficiency or holocarboxylase deficiency.

 

Urine C5OH is useful in differentiating patients with 3-methylcrotonylglycinuria and with 3-methylglutaconic aciduria as they typically excrete larger amounts of C5-OH in urine compared to patients with the other diagnoses.

Method Name A short description of the method used to perform the test

Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

C5-OH Acylcarnitine, QN, U

Aliases Lists additional common names for a test, as an aid in searching

3-Methylcrotonylglycinuria
3MCC
Biotinidase
BKT
HCS
Hydroxymethylglutaryl-CoA (HMG-CoA) Lyase Deficiency
MCC
MHBD
Multiple Carboxylase Deficiency
3-Hydroxy Isovalerylcarnitine
3-Methylcrotonyl-CoA Carboxylase Deficiency
3-Methylglutaconic Aciduria Type 1
3-Methylglutaconic Aciduria Type I
3-Methylglutaconyl-CoA Hydratase Deficiency
Acylcarnitines, Urine
Beta-Ketothiolase
Beta-Ketothiolase Deficiency
Biotinidase Deficiency
HCS Deficiency
HMG-CoA (Hydroxymethylglutaryl-CoA) Lyase Deficiency
Holocarboxylase Deficiency
Holocarboxylase Synthetase Deficiency