25683 Amino Acids, Quantitative, Spinal Fluid (AACSF)

​NKH (Nonketotic Hyperglycinemia)
Nonketotic Hyperglycinemia (NKH)
Serine Biosynthesis Defects
Glycine encephalopathy

C AACSFSO

Amino Acids Qnt, CSF (AACSF)

Collect specimen from second collection vial.  

1. Patient's age is required.

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

Additional Testing Requirements:

This test should be ordered in conjunction with AAQP / Amino Acids, Quantitative, Plasma. The specimens for both tests (AAQP / Amino Acids, Quantitative, Plasma and AACSF / Amino Acids, Quantitative, Spinal Fluid) should be collected at the same time. 

​All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

​Proper specimen collection and handling are crucial to achieve reliable results. Blood contamination can interfere with test results.

​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 intellectual diabilities 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.

​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, and the telephone number to reach one of the laboratory directors in case the referring physician has additional questions.