Two forms of ASL deficiency have been recognized: an early-onset, or malignant, type and a late-onset type. Onset of symptoms of early-onset argininosuccinic aciduria occurs in the first weeks of life. Features include mental and physical retardation, convulsions, episodic unconsciousness, liver enlargement, skin lesions, and dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red. The late-onset type of ASL deficiency is characterized by residual enzyme activity as measured by the incorporation of C-14-citrulline into proteins. Symptoms include relatively mild clinical symptoms, variable age of onset, marked argininosuccinic aciduria, and severe, but not complete, deficiency of argininosuccinate lyase. Early treatment of partial argininosuccinate lyase deficiency with arginine supplementation can result in normal intellectual and psychomotor development.
Sequencing of the ASL gene is recommended after a biochemical analysis consistent with ASL deficiency, and provides a complementary method to confirm the presence of mutations in a proband, identify carriers among the proband's relatives, and provide prenatal diagnosis in families with known mutations.
For patients with mutations not identified by full gene sequencing, a separate deletion/duplication assay is available using a targeted CGH array (JC).
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- Confirmation of a clinical/biochemical diagnosis of ASL deficiency.
- Carrier testing in adults with a family history of ASL deficiency.
Analytical Sensitivity: ~99%
Submit only 1 of the following specimen types
Preferred specimen type: Whole Blood
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.
Specimen Requirements:OrageneTM Saliva Collection kit (available through EGL) used according to manufacturer instructions.
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.