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Test ID: AACSF Amino Acids, Quantitative, Spinal Fluid

Reporting Name

Amino Acids, QN, CSF

Useful For

Evaluating patients with possible inborn errors of amino acid metabolism, in particular nonketotic hyperglycinemia and serine biosynthesis defects, especially when used in conjunction with concomitantly drawn plasma specimens.

Specimen Type

CSF


Necessary Information


1. Patient's age is required.

2. Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information



Specimen Required


Container/Tube: Sterile vial

Specimen Volume: 0.2 mL

Collection Instructions: Collect specimen from second collection vial.


Specimen Minimum Volume

0.1 mL

Specimen Stability Information

Specimen Type Temperature Time
CSF Frozen 14 days

Reference Values

CSF Amino Acid Reference Values (nmol/mL)

Age Groups

≤31 Days
(n=73)

32 Days-23 Months
(n=88)

2-18 Years
(n=189)

≥19 Years
(n=32)

Phosphoserine (PSer)

<1

<1

<1

<1

Phosphoethanolamine (PEtN)

<15

<10

<8

<7

Taurine (Tau)

8-48

<28

<13

<20

Asparagine (Asn)

8-34

5-16

<10

5-20

Serine (Ser)

44-136

26-71

21-51

19-40

Hydroxyproline (Hyp)

<7

<3

<1

<2

Glycine (Gly)

5-115

<33

<11

<35

Glutamine (Gln)

467-1832

301-1128

326-1092

380-1348

Aspartic Acid (Asp)

<1

<1

<1

<2

Ethanolamine (EtN)

11-193

7-155

7-153

7-153

Histidine (His)

11-70

9-28

9-21

9-28

Threonine (Thr)

32-143

11-77

14-38

23-57

Citrulline (Cit)

<11

<6

<3

<9

Sarcosine (Sar)

<1

<1

<1

<1

Beta-alanine (bAla)

<26

<25

<25

<25

Alanine (Ala)

24-124

16-53

12-34

19-60

Glutamic Acid (Glu)

<12

<3

<1

<4

1-Methylhistidine (1MHis)

<3

<1

<2

<3

3-Methylhistidine (3MHis)

<4

<1

<1

<2

Argininosuccinic Acid (Asa)

<1

<2

<1

<1

Carnosine (Car)

<1

<1

<1

<1

Anserine (Ans)

<9

<9

<7

<3

Homocitrulline (Hcit)

<3

<1

<1

<1

Arginine (Arg)

5-39

11-35

11-27

11-32

Alpha-aminoadipic Acid (Aad)

<1

<1

<1

<1

Gamma-amino-n-butyric Acid (GABA)

<1

<1

<1

<1

Beta-aminoisobutyric Acid (bAib)

<1

<1

<1

<1

Alpha-amino-n-butyric Acid (Abu)

<15

<6

<5

<14

Hydroxylysine (Hyl)

<1

<1

<1

<1

Proline (Pro)

<17

<6

<2

<6

Ornithine (Orn)

<24

<12

<6

<11

Cystathionine (Cth)

<1

<2

<1

<1

Cystine (Cys)

<2

<2

<1

<1

Lysine (Lys)

11-63

9-33

10-25

13-42

Methionine (Met)

<43

<9

<6

<10

Valine (Val)

14-61

9-28

8-20

11-40

Tyrosine (Tyr)

8-83

5-24

<17

5-17

Homocystine (Hcy)

<1

<1

<1

<1

Isoleucine (Ile)

<27

<13

<8

<17

Leucine (Leu)

12-41

6-21

7-16

7-29

Phenylalanine (Phe)

7-40

5-18

<12

7-21

Tryptophan (Trp)

<12

<6

<4

<4

Allo-isoleucine (AlloIle)

<3

<2

<2

<2

Day(s) and Time(s) Performed

Monday through Friday; 8:00 a.m.

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

82139

LOINC Code Information

Test ID Test Order Name Order LOINC Value
AACSF Amino Acids, QN, CSF In Process

 

Result ID Test Result Name Result LOINC Value
34564 Phosphoserine 26737-7
34565 Phosphoethanolamine 26597-5
81934 Taurine 26614-8
30109 Asparagine 26603-1
30108 Serine 22644-9
34566 Hydroxyproline 26596-7
30115 Glycine 22650-6
30111 Glutamine 22641-5
34567 Aspartic Acid 22655-5
34568 Ethanolamine 26593-4
30128 Histidine 9453-2
30107 Threonine 22643-1
30117 Citrulline 22654-8
34569 Sarcosine 26598-3
34570 Beta-alanine 26589-2
30116 Alanine 22657-1
30110 Glutamic Acid 22652-2
34571 1-Methylhistidine 26584-3
34572 3-Methylhistidine 26585-0
34573 Argininosuccinic Acid 40838-5
34574 Carnosine 26591-8
34575 Anserine 26588-4
34576 Homocitrulline 55875-9
30129 Arginine 22656-3
34577 Alpha-aminoadipic Acid 26587-6
34578 Gamma-amino-n-butyric Acid 26594-2
34579 Beta-aminoisobutyric Acid 26590-0
30118 Alpha-amino-n-butyric Acid 26586-8
34580 Hydroxylysine 26595-9
30112 Proline 22645-6
30126 Ornithine 22647-2
34581 Cystathionine 26592-6
30120 Cystine 22653-0
30127 Lysine 22651-4
30121 Methionine 22648-0
30119 Valine 22649-8
30124 Tyrosine 22642-3
30122 Isoleucine 22659-7
30123 Leucine 9412-8
30125 Phenylalanine 22646-4
34582 Tryptophan 26602-3
34583 Allo-isoleucine 22658-9
50435 Interpretation 59462-2

Clinical Information

Amino acids are the basic structural units that comprise proteins and are found throughout the body. Many inborn errors of amino acid metabolism that affect amino acid transport and metabolism have been identified. Amino acid disorders can manifest at any age, but most become evident in infancy or early childhood. These disorders result in the accumulation or deficiency of 1 or more amino acids in biological fluids, which leads to the clinical signs and symptoms of the particular amino acid disorder.

 

The clinical presentation is dependent upon the specific amino acid disorder. In general, affected patients may experience failure to thrive, neurologic symptoms, digestive problems, dermatologic findings, and physical and cognitive delays. If not diagnosed and treated promptly, amino acid disorders can result in mental retardation and death.

 

Cerebrospinal fluid (CSF) specimens are highly informative for a subset of these conditions, such as nonketotic hyperglycinemia and serine biosynthesis defects. CSF specimens are most informative when a plasma specimen is drawn at the same time and the ratio of the amino acid concentrations in CSF to plasma is calculated.

Interpretation

When no significant abnormalities are detected, a simple descriptive interpretation is provided. When abnormal results are detected, a detailed interpretation is provided. This interpretation includes an overview of the results and their significance, a correlation to available clinical information, elements of differential diagnosis, and recommendations for additional biochemical testing and in vitro confirmatory studies (enzyme assay, molecular analysis), name and phone number of key contacts who may provide these studies at Mayo Clinic or elsewhere, and the telephone number to reach one of the laboratory directors in case the referring physician has additional questions.

Clinical Reference

Rinaldo P, Hahn S, Matern D: Inborn errors of amino acid, organic acid, and fatty acid metabolism. In Tietz Textbook of Clinical Chemistry and Molecular Diagnosis. Fourth edition. Edited by CA Burtis, ER Ashwood, DE Bruns. St. Louis, WB Saunders Company, 2005, pp 2207-2247

Analytic Time

3 days (not reported on Saturday or Sunday)

Testing Algorithm

Includes quantitation of the following amino acids: phosphoserine, phosphoethanolamine, taurine, threonine, serine, hydroxyproline, asparagine, glutamic acid, 1-methylhistidine, 3-methylhistidine, argininosuccinic acid, carnosine, anserine, homocitrulline, alpha-aminoadipic acid, gamma-amino-n-butyric acid, beta-aminoisobutyric acid, alpha-amino-n-butyric acid, hydroxylysine, glutamine, aspartic acid, ethanolamine, proline, glycine, alanine, citrulline, sarcosine, beta-alanine, alpha-amino-n-butyric acid, valine, cystine, methionine, isoleucine, leucine, tyrosine, phenylalanine, ornithine, cystathionine, tryptophan, allo-isoleucine, lysine, histidine, and arginine.

Method Name

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-biochemical