Sorted By Test Name - Mayo Medical Laboratories

CACTK
61195
CAROB
82368
analysis.
Useful For: Confirmation of diagnosis of carnitine-acylcarnitine translocase (CACT) deficiency
Carrier screening in cases where there is a family history of CACT deficiency, but disease-causing
mutations have not been identified in an affected individual
Reference Values:
An interpretive report will be provided.
Clinical References: 1. Wang GL, Wang J, Douglas G, et al: Expanded molecular features of
carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis. Mol Genet
Metab 2011 Aug;103(4):349-357 2. Rubio-Gozalbo ME, Bakker, JA, Waterham, HR, Wanders RJA:
Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects. Mol Aspects
Med 2004 Oct-Dec;25(5-6):521-532
Carnitine-Acylcarnitine Translocase Deficiency, Known
Mutation
Clinical Information: Carnitine-acylcarnitine translocase (CACT) deficiency is a rare autosomal
recessive disorder of fatty acid oxidation. The disease typically presents in the neonatal period with severe
hypoketotic hypoglycemia, hyperammonemia, cardiac abnormalities, hepatic dysfunction, skeletal muscle
weakness, encephalopathy, and early death. However, presentations at a later age with a milder phenotype
have also been reported. Initial screening can be done with plasma acylcarnitines. Definitive diagnosis can
be made by detection of reduced CACT enzyme activity. Mutations in the SLC25A20 gene are
responsible for CACT deficiency, and sequencing of this gene is recommended after positive biochemical
analysis.
Useful For: Diagnostic confirmation of carnitine-acylcarnitine translocase deficiency when familial
mutations have been previously identified
Interpretation: An interpretive report will be provided.
Reference Values:
An interpretive report will be provided.
Clinical References: 1. Wang GL, Wang J, Douglas G, et al: Expanded molecular features of
carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis. Mol Genet
Metab 2011 Aug;103(4):349-357 2. Rubio-Gozalbo ME, Bakker, JA, Waterham, HR, Wanders RJA:
Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects. Mol Aspects
Med 2004 Oct-Dec;25(5-6):521-532
Carob, IgE
Clinical Information: Clinical manifestations of immediate hypersensitivity (allergic) diseases are
caused by the release of proinflammatory mediators (histamine, leukotrienes, and prostaglandins) from
immunoglobulin E (IgE)-sensitized effector cells (mast cells and basophils) when cell-bound IgE
antibodies interact with allergen. In vitro serum testing for IgE antibodies provides an indication of the
immune response to allergen(s) that may be associated with allergic disease. The allergens chosen for
testing often depend upon the age of the patient, history of allergen exposure, season of the year, and
clinical manifestations. In individuals predisposed to develop allergic disease(s), the sequence of
sensitization and clinical manifestations proceed as follows: eczema and respiratory disease (rhinitis and
bronchospasm) in infants and children less than 5 years due to food sensitivity (milk, egg, soy, and wheat
proteins) followed by respiratory disease (rhinitis and asthma) in older children and adults due to
sensitivity to inhalant allergens (dust mite, mold, and pollen inhalants).
Useful For: Testing for IgE antibodies may be useful to establish the diagnosis of an allergic disease
and to define the allergens responsible for eliciting signs and symptoms. Testing also may be useful to
identify allergens which may be responsible for allergic disease and/or anaphylactic episode, to confirm
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