Sorted By Test Name - Mayo Medical Laboratories

FAIRP
91928
ALT
8362
AGXT
83643
Rumsby G: Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of
patients with primary hyperoxaluria type 1. Clin Chem 2007;53(7):1216-1221 7. Communique April
2007: Laboratory and Molecular Diagnosis of Primary Hyperoxaluria and Oxalosis
Airway Pepsin Assay
Reference Values:
Test Performed by: Alfred I. duPont Hospital for Children-Gastroenterology
Gastroenterology Lab Research Bldg. Rm 250
1600 Rockland Road
Wilmington, DE 19803
Alanine Aminotransferase (ALT) (GPT), Serum
Clinical Information: Alanine aminotransferase (ALT) is present primarily in liver cells. In viral
hepatitis and other forms of liver disease associated with hepatic necrosis, serum ALT is elevated even
before the clinical signs and symptoms of the disease appear. Although serum levels of both AST and
ALT become elevated whenever disease processes affect liver cell integrity, ALT is a more liver-specific
enzyme. Serum elevations of ALT are rarely observed in conditions other than parenchymal liver disease.
Moreover, the elevation of ALT activity persists longer than does AST activity.
Useful For: ALT is useful in the diagnosis and monitoring of liver disease associated with hepatic
necrosis.
Interpretation: Elevated ALT values are seen in parenchymal liver diseases characterized by a
destruction of hepatocytes. Values are typically at least ten times above the normal range. Levels may
reach values as high as one hundred times the upper reference limit, although twenty to fifty-fold
elevations are most frequently encountered. In infectious hepatitis and other inflammatory conditions
affecting the liver, ALT is characteristically as high as or higher than AST, and the ALT/AST ratio, which
normally and in other condition is less than 1, becomes greater than unity. ALT levels are usually elevated
before clinical signs and symptoms of disease appear.
Reference Values:
Males
> or =1 year: 7-55 U/L
Reference values have not been established for patients that are less than 12 months of age.
Females
> or =1 year: 7-45 U/L
Reference values have not been established for patients that are less than 12 months of age.
Clinical References: Tietz Textbook of Clinical Chemistry. Edited by Burtis and Ashwood.
Philadelphia, WB Saunders Co, 1994
Alanine:Glyoxylate Aminotransferase (AGXT) Mutation Analysis
(G170R), Blood
Clinical Information: Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder in
which excessive oxalates are formed by the liver and excreted by the kidneys, causing a wide spectrum of
disease ranging from renal failure in infancy to mere renal stones in late adulthood. It is caused by
deficiencies of the liver-specific peroxisomal enzyme AGXT (alanine-glyoxylate amino-transferase). The
diagnosis may be suspected when clinical signs, increased urinary oxalate, glycolate, and glycerate
excretion are present. Diagnostic confirmation requires the enzyme assay of the liver tissue, although this
test is not readily available. The toxicity of excess oxalate has been implicated in disease pathogenesis.
Thus, treatment options have primarily centered on limiting oxalate ingestion and absorption. Pyridoxine
(vitamin B[6]) has proven to be a promising therapeutic agent by increasing the concentration of cofactor
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